Variant report

Variant	rs559495329
Chromosome Location	chr21:16403335-16403336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16401518..16403961-chr21:16435811..16437558,2	MCF-7	breast:
2	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
3	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3424748	chr21:16402081-16405279	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1846953	chr21:16402886-16404301	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1814373	chr21:16402886-16404445	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1803069	chr21:16402886-16404758	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3401937	chr21:16402994-16403681	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv10517	chr21:16403191-16404403	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1800271	chr21:16403304-16404445	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1809898	chr21:16403304-16404445	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1822122	chr21:16403304-16404445	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
4	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
6	chr21:16379600-16414800	Weak transcription	Ovary	ovary
7	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
10	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:16386000-16413200	Weak transcription	K562	blood
13	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:16391200-16404200	Weak transcription	NH-A	brain
16	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:16393800-16404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
19	chr21:16393800-16406800	Weak transcription	Dnd41	blood
20	chr21:16394000-16404400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:16394400-16406200	Weak transcription	HMEC	breast
22	chr21:16395600-16406800	Weak transcription	NHEK	skin
23	chr21:16396400-16406000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
25	chr21:16396600-16406200	Weak transcription	NHLF	lung
26	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:16397600-16404000	Weak transcription	GM12878-XiMat	blood
28	chr21:16397600-16406200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:16399400-16403400	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
31	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:16400400-16403400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:16400600-16406200	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:16400800-16405800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:16400800-16406000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:16400800-16406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr21:16400800-16406400	Weak transcription	Fetal Lung	lung
39	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:16401200-16411400	Weak transcription	Fetal Kidney	kidney
41	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:16401600-16404400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:16401600-16407200	Strong transcription	HSMM	muscle
44	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
46	chr21:16401800-16403400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:16401800-16403600	Weak transcription	Lung	lung
48	chr21:16401800-16403800	Strong transcription	Primary B cells from cord blood	blood
49	chr21:16401800-16404400	Strong transcription	Fetal Muscle Leg	muscle
50	chr21:16401800-16406000	Weak transcription	Small Intestine	intestine

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