Variant report

Variant	rs605621
Chromosome Location	chr3:101539420-101539421
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101539271..101542459-chr3:101908051..101911451,3	MCF-7	breast:
2	chr3:101534220..101535747-chr3:101538217..101540882,2	MCF-7	breast:
3	chr3:101529875..101542964-chr3:101564408..101571425,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13090844	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2625282	0.81[EUR][1000 genomes]
rs2625289	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2722166	0.81[EUR][1000 genomes]
rs623753	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665631	1.00[ASN][1000 genomes]
rs682610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101498800-101546200	Weak transcription	Esophagus	oesophagus
2	chr3:101502600-101540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:101502600-101540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:101504800-101546000	Weak transcription	Colonic Mucosa	Colon
5	chr3:101515200-101540200	Weak transcription	NHLF	lung
6	chr3:101515400-101546000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:101516000-101546000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:101520400-101546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:101520800-101539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:101520800-101540200	Weak transcription	Lung	lung
11	chr3:101520800-101546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:101521200-101546200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:101522200-101540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:101522800-101540200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:101523400-101540400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:101523800-101540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:101525800-101540200	Weak transcription	Osteobl	bone
18	chr3:101528600-101540000	Weak transcription	Fetal Lung	lung
19	chr3:101528600-101546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:101529000-101540200	Weak transcription	NH-A	brain
21	chr3:101529600-101540200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:101529600-101540200	Weak transcription	HUVEC	blood vessel
23	chr3:101529600-101540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:101532200-101539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:101533200-101540200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:101533600-101544800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:101533800-101540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:101533800-101545000	Weak transcription	Small Intestine	intestine
29	chr3:101534000-101540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:101534000-101540200	Weak transcription	Pancreas	Pancrea
31	chr3:101534000-101540400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:101534000-101540400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:101534000-101545000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:101534000-101546000	Weak transcription	Fetal Kidney	kidney
35	chr3:101534400-101540200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:101534400-101540400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:101534400-101544800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:101534600-101540200	Weak transcription	Fetal Intestine Small	intestine
39	chr3:101534600-101544600	Weak transcription	Stomach Mucosa	stomach
40	chr3:101534600-101546000	Weak transcription	Fetal Intestine Large	intestine
41	chr3:101535600-101541200	Strong transcription	Primary T cells from cord blood	blood
42	chr3:101535600-101541400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr3:101535600-101541600	Strong transcription	Brain Substantia Nigra	brain
44	chr3:101535800-101541400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:101535800-101541600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:101535800-101542000	Strong transcription	HSMM	muscle
47	chr3:101535800-101546200	Weak transcription	Placenta	Placenta
48	chr3:101536000-101540800	Strong transcription	Brain Anterior Caudate	brain
49	chr3:101536000-101541400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:101536200-101544800	Weak transcription	NHEK	skin

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