Variant report

Variant	rs556330
Chromosome Location	chr21:44824964-44824965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
2	chr21:44823778..44826577-chr21:44921300..44923032,2	MCF-7	breast:
3	chr21:44823951..44826613-chr21:44829582..44832057,3	K562	blood:
4	chr21:44824614..44826616-chr21:44827888..44829786,2	MCF-7	breast:
5	chr21:44810007..44811602-chr21:44823731..44826616,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
14	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
16	nsv913848	chr21:44817248-44848070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
18	esv1795905	chr21:44820999-44837533	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	esv1819475	chr21:44820999-44837533	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	esv1851649	chr21:44820999-44837533	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
21	nsv820461	chr21:44821113-44838810	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
22	esv1823841	chr21:44821199-44837333	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	esv1793470	chr21:44821199-44838738	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	esv1799259	chr21:44821199-44838738	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	esv1813433	chr21:44821199-44838738	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
26	esv1830848	chr21:44821199-44838738	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
27	esv1849312	chr21:44821199-44838738	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
28	esv1818512	chr21:44821199-44841225	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
29	esv1845794	chr21:44821199-44841225	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
30	esv32887	chr21:44821225-44839128	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
31	nsv828883	chr21:44821563-44838810	Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
32	esv1823170	chr21:44821595-44837766	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
33	nsv587668	chr21:44821867-44835508	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
34	nsv459280	chr21:44821867-44839682	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
35	nsv587669	chr21:44821867-44839682	Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
36	nsv913850	chr21:44821867-44839682	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
37	nsv470902	chr21:44821867-44848069	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
38	nsv913851	chr21:44821867-44848070	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
39	esv2760703	chr21:44822257-44842623	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
40	esv1826084	chr21:44822330-44837533	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
41	esv1826004	chr21:44822504-44838738	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
42	esv10863	chr21:44822523-44838545	Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
43	nsv819251	chr21:44822576-44836679	Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
44	nsv828884	chr21:44822727-44837377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
45	nsv828885	chr21:44822727-44837810	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
46	nsv828887	chr21:44822727-44838406	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
47	nsv828888	chr21:44822727-44838414	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
48	esv1802570	chr21:44822751-44837533	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
49	esv1809807	chr21:44822751-44837533	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
50	esv1813478	chr21:44822751-44837533	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44821200-44829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:44821200-44829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:44821600-44835400	Weak transcription	Fetal Brain Female	brain
6	chr21:44821800-44831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:44822000-44830000	Weak transcription	A549	lung
8	chr21:44822200-44828600	Weak transcription	GM12878-XiMat	blood
9	chr21:44822200-44829200	Weak transcription	Thymus	Thymus
10	chr21:44822400-44829000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:44822600-44825800	Weak transcription	Right Ventricle	heart
12	chr21:44823000-44825000	Enhancers	Liver	Liver
13	chr21:44823000-44825000	Enhancers	Esophagus	oesophagus
14	chr21:44823000-44828800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:44823200-44829200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr21:44823600-44825600	Enhancers	Fetal Muscle Leg	muscle
17	chr21:44823800-44825000	Enhancers	HSMMtube	muscle
18	chr21:44824000-44825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:44824000-44825000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr21:44824000-44828800	Weak transcription	Brain Germinal Matrix	brain
21	chr21:44824200-44828200	Weak transcription	Primary B cells from cord blood	blood
22	chr21:44824200-44828800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:44824400-44825000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:44824400-44825800	Enhancers	HepG2	liver
25	chr21:44824400-44826800	Weak transcription	Fetal Intestine Large	intestine
26	chr21:44824600-44825000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:44824600-44825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:44824600-44826600	Weak transcription	Fetal Intestine Small	intestine
29	chr21:44824600-44826800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr21:44824600-44829200	Weak transcription	Spleen	Spleen
31	chr21:44824800-44825000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr21:44824800-44827200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:44824800-44829000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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