Variant report

Variant	rs547505380
Chromosome Location	chr1:209966404-209966405
allele	-/GAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
2	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
3	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162757	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1067914	chr1:209955818-209972979	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
7	esv2360491	chr1:209966403-209966405	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209957800-209978600	Weak transcription	Spleen	Spleen
2	chr1:209958000-209971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209958400-209968600	Weak transcription	Lung	lung
4	chr1:209958400-209971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:209958400-209974000	Weak transcription	Aorta	Aorta
6	chr1:209958400-209978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:209958600-209966600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:209958600-209967000	Genic enhancers	NHEK	skin
9	chr1:209958600-209971200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:209958600-209972000	Weak transcription	Fetal Kidney	kidney
11	chr1:209958600-209978800	Weak transcription	Right Ventricle	heart
12	chr1:209960800-209969000	Strong transcription	Placenta	Placenta
13	chr1:209961000-209974600	Weak transcription	Right Atrium	heart
14	chr1:209961600-209974600	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr1:209962000-209972600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:209962200-209977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:209963000-209966600	Genic enhancers	Fetal Intestine Large	intestine
18	chr1:209963000-209978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:209963600-209967000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:209964200-209976000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:209964200-209977800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:209964200-209978000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:209964400-209968000	Weak transcription	HUVEC	blood vessel
24	chr1:209964400-209978200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:209964600-209967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:209964600-209968000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:209964600-209971600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:209965200-209975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:209965600-209969600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:209965800-209968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:209965800-209970600	Strong transcription	Liver	Liver
32	chr1:209965800-209974600	Weak transcription	Small Intestine	intestine
33	chr1:209966000-209968000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:209966000-209968400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:209966000-209968400	Weak transcription	Esophagus	oesophagus
36	chr1:209966000-209968400	Weak transcription	Gastric	stomach
37	chr1:209966000-209969400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:209966000-209973000	Weak transcription	Left Ventricle	heart
39	chr1:209966000-209976200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:209966000-209978000	Weak transcription	Colonic Mucosa	Colon
41	chr1:209966000-209978400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:209966200-209967000	Weak transcription	Pancreas	Pancrea
43	chr1:209966200-209968600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:209966200-209970800	Weak transcription	Stomach Mucosa	stomach
45	chr1:209966200-209974600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:209966400-209971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:209966400-209971200	Strong transcription	HMEC	breast

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