Variant report

Variant	rs553238947
Chromosome Location	chr21:45210969-45210970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45210944-45211228	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:45210847-45211383	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
2	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
3	chr21:45210899..45216228-chr21:45227595..45230862,5	MCF-7	breast:
4	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
5	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
6	chr21:45141091..45143140-chr21:45208651..45211403,2	K562	blood:
7	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
8	chr21:45210542..45212642-chr21:45354588..45357125,2	K562	blood:
9	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
10	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
11	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
12	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
13	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
14	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:

No data

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45208800-45211000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr21:45209800-45211000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr21:45209800-45211000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr21:45209800-45211000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr21:45209800-45211400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:45210000-45211000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr21:45210000-45211000	Enhancers	Spleen	Spleen
8	chr21:45210000-45211000	Flanking Active TSS	Dnd41	blood
9	chr21:45210000-45211000	Transcr. at gene 5' and 3'	NHEK	skin
10	chr21:45210000-45211200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr21:45210000-45211200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr21:45210000-45211200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:45210000-45211200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr21:45210200-45211000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:45210200-45211000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:45210200-45211000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:45210200-45211000	Enhancers	Stomach Mucosa	stomach
18	chr21:45210200-45211000	Flanking Active TSS	Hela-S3	cervix
19	chr21:45210200-45211000	Transcr. at gene 5' and 3'	K562	blood
20	chr21:45210200-45211200	Enhancers	Primary B cells from peripheral blood	blood
21	chr21:45210200-45211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45210200-45212400	Weak transcription	Aorta	Aorta
23	chr21:45210400-45211000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:45210400-45211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:45210400-45211000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45210400-45211000	Enhancers	Primary hematopoietic stem cells	blood
27	chr21:45210400-45211000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:45210400-45211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:45210400-45211000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:45210400-45211000	Enhancers	Liver	Liver
31	chr21:45210400-45211000	Enhancers	Fetal Heart	heart
32	chr21:45210400-45211000	Enhancers	Fetal Lung	lung
33	chr21:45210400-45211000	Enhancers	Lung	lung
34	chr21:45210400-45211000	Enhancers	Right Atrium	heart
35	chr21:45210400-45211000	Enhancers	Thymus	Thymus
36	chr21:45210400-45211200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:45210400-45211200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45210400-45211200	Enhancers	Brain Anterior Caudate	brain
39	chr21:45210400-45211200	Enhancers	Brain Substantia Nigra	brain
40	chr21:45210400-45211200	Enhancers	Esophagus	oesophagus
41	chr21:45210400-45211200	Enhancers	Fetal Brain Male	brain
42	chr21:45210400-45211200	Genic enhancers	Fetal Stomach	stomach
43	chr21:45210400-45211200	Flanking Active TSS	GM12878-XiMat	blood
44	chr21:45210400-45211400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr21:45210400-45211400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:45210400-45211400	Weak transcription	Gastric	stomach
47	chr21:45210400-45211400	Enhancers	Pancreas	Pancrea
48	chr21:45210400-45211400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr21:45210400-45211400	Enhancers	Small Intestine	intestine
50	chr21:45210400-45211800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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