Variant report

Variant	rs7576237
Chromosome Location	chr2:37879122-37879123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37878373-37879123	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:37877212-37879204	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:37878442-37879130	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37878873..37880892-chr2:37884421..37886893,2	K562	blood:
2	chr2:37877216..37879655-chr2:37884753..37886765,2	MCF-7	breast:
3	chr2:37877539..37880523-chr2:37887000..37889009,2	K562	blood:
4	chr2:37869759..37872018-chr2:37878989..37880854,2	MCF-7	breast:

Variant related genes	Relation type
CDC42EP3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72795739	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72795742	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7608057	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37860800-37879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37864200-37880200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:37864400-37879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:37866800-37881000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:37867000-37880600	Genic enhancers	Muscle Satellite Cultured Cells	--
7	chr2:37868600-37879800	Genic enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:37871400-37880600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:37872200-37881800	Weak transcription	Fetal Kidney	kidney
11	chr2:37872400-37880800	Weak transcription	Fetal Brain Male	brain
12	chr2:37873000-37881400	Enhancers	Right Atrium	heart
13	chr2:37873600-37879600	Weak transcription	Gastric	stomach
14	chr2:37873600-37879600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:37873600-37880200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:37873600-37881000	Weak transcription	Ovary	ovary
17	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:37874200-37881600	Genic enhancers	NHLF	lung
19	chr2:37874400-37881600	Enhancers	Psoas Muscle	Psoas
20	chr2:37874400-37883200	Enhancers	Adipose Nuclei	Adipose
21	chr2:37874600-37884000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:37874800-37880000	Genic enhancers	Lung	lung
24	chr2:37874800-37882000	Enhancers	Left Ventricle	heart
25	chr2:37875200-37879400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:37875200-37881800	Enhancers	Spleen	Spleen
27	chr2:37875200-37882200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:37875400-37879400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:37875400-37881200	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:37875400-37883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:37875600-37879200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:37875600-37881000	Weak transcription	Fetal Brain Female	brain
33	chr2:37875600-37881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:37875800-37879400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:37875800-37879400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:37875800-37879600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:37875800-37879600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:37875800-37880400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:37875800-37881000	Weak transcription	Brain Germinal Matrix	brain
40	chr2:37875800-37881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:37875800-37882000	Enhancers	Right Ventricle	heart
42	chr2:37875800-37883800	Genic enhancers	NHDF-Ad	bronchial
43	chr2:37875800-37884400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
46	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
47	chr2:37876000-37879400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:37876000-37880200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:37876000-37880600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:37876000-37881000	Weak transcription	Fetal Lung	lung

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