Variant report

Variant	rs3820635
Chromosome Location	chr1:226832211-226832212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226831819..226832498-chr1:227015490..227016147,2	MCF-7	breast:
2	chr1:226827940..226829963-chr1:226831824..226834705,3	K562	blood:
3	chr1:226828494..226832604-chr1:226851440..226853779,3	K562	blood:
4	chr1:226830168..226832886-chr1:227064468..227067080,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10495246	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1144838	0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1144839	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1144840	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151804	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1288936	0.85[JPT][hapmap]
rs17522524	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17588687	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768376	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820637	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs697843	0.90[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7533764	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv516277	chr1:226825341-226833304	Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
2	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
4	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
5	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:226822000-226833400	Weak transcription	Fetal Heart	heart
8	chr1:226823200-226834800	Weak transcription	Fetal Kidney	kidney
9	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
10	chr1:226823400-226834400	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr1:226823800-226837400	Strong transcription	Dnd41	blood
12	chr1:226824000-226834800	Genic enhancers	Fetal Muscle Leg	muscle
13	chr1:226824800-226836800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:226825000-226834200	Weak transcription	Liver	Liver
15	chr1:226825800-226834000	Genic enhancers	Brain Anterior Caudate	brain
16	chr1:226826600-226833000	Weak transcription	Psoas Muscle	Psoas
17	chr1:226826600-226833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:226828000-226837200	Genic enhancers	Brain Hippocampus Middle	brain
19	chr1:226828600-226832600	Genic enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:226828800-226832600	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr1:226829200-226834800	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr1:226829400-226843800	Weak transcription	Brain Germinal Matrix	brain
23	chr1:226829600-226835000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:226829800-226833000	Weak transcription	Left Ventricle	heart
25	chr1:226829800-226834800	Weak transcription	Aorta	Aorta
26	chr1:226830000-226833200	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:226830000-226834800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:226830200-226833000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:226830200-226834400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:226830200-226834800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:226830400-226833000	Enhancers	NH-A	brain
32	chr1:226830400-226833600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:226830400-226834200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:226830400-226834200	Genic enhancers	Thymus	Thymus
35	chr1:226830400-226834400	Genic enhancers	Fetal Stomach	stomach
36	chr1:226830400-226834400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:226830400-226834800	Genic enhancers	Fetal Thymus	thymus
38	chr1:226830400-226835600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:226830400-226840400	Genic enhancers	Primary T cells from cord blood	blood
40	chr1:226830400-226840400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:226830600-226832400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:226830600-226832400	Enhancers	Stomach Mucosa	stomach
43	chr1:226830600-226832600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:226830600-226832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:226830600-226832800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:226830600-226832800	Genic enhancers	Adipose Nuclei	Adipose
47	chr1:226830600-226833400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:226830600-226834600	Genic enhancers	Esophagus	oesophagus
49	chr1:226830600-226835000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:226830600-226835000	Genic enhancers	Colon Smooth Muscle	Colon

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