Variant report

Variant	rs2396531
Chromosome Location	chr7:111987533-111987534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111986864..111991026-chr7:112090313..112092457,3	MCF-7	breast:
2	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2006275	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016864	1.00[EUR][1000 genomes]
rs2396532	0.96[EUR][1000 genomes]
rs2396533	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4425678	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473127	0.83[EUR][1000 genomes]
rs62473129	0.91[EUR][1000 genomes]
rs62473137	0.91[EUR][1000 genomes]
rs62473139	0.92[EUR][1000 genomes]
rs62473141	0.87[EUR][1000 genomes]
rs62473143	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473145	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473146	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473147	1.00[EUR][1000 genomes]
rs62473148	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473149	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473152	1.00[EUR][1000 genomes]
rs62473153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473154	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473157	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473960	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474000	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474001	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474003	1.00[EUR][1000 genomes]
rs62474007	1.00[EUR][1000 genomes]
rs62474009	1.00[EUR][1000 genomes]
rs62474010	0.91[EUR][1000 genomes]
rs62474011	1.00[EUR][1000 genomes]
rs62474012	1.00[EUR][1000 genomes]
rs62474014	1.00[EUR][1000 genomes]
rs6960155	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs736760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739746	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv2762697	chr7:111983278-111988953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:111966000-111989600	Weak transcription	Gastric	stomach
3	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
4	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:111978400-111987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:111978400-111989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:111978400-111990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:111978400-111990400	Weak transcription	Brain Germinal Matrix	brain
11	chr7:111978600-111990400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:111980800-111991400	Weak transcription	NHDF-Ad	bronchial
13	chr7:111982000-111991400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:111982400-111989200	Weak transcription	Fetal Stomach	stomach
15	chr7:111982600-111990800	Weak transcription	Fetal Brain Female	brain
16	chr7:111982800-111997000	Weak transcription	HepG2	liver
17	chr7:111983600-111991400	Weak transcription	Osteobl	bone
18	chr7:111983800-111988400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:111983800-111991000	Weak transcription	HSMM	muscle
20	chr7:111983800-111991200	Weak transcription	Brain Anterior Caudate	brain
21	chr7:111983800-111991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:111983800-111993200	Weak transcription	Fetal Heart	heart
23	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
24	chr7:111984000-111987600	Weak transcription	Right Ventricle	heart
25	chr7:111984000-111988000	Weak transcription	Aorta	Aorta
26	chr7:111984000-111988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:111984000-111989600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:111984000-111990000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:111984000-111991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:111984000-111991400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:111984200-111991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:111984200-111993200	Weak transcription	HSMMtube	muscle
33	chr7:111984400-111988800	Weak transcription	Primary B cells from cord blood	blood
34	chr7:111984400-111989600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:111984400-111989600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:111984400-111990600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:111984400-111990800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:111984400-111991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:111984400-111991400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:111984400-111991400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:111984400-111993200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:111984600-111988000	Weak transcription	Placenta	Placenta
43	chr7:111984600-111988200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:111984600-111989400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:111985000-111991000	Weak transcription	Liver	Liver
46	chr7:111985400-111989600	Weak transcription	A549	lung
47	chr7:111985400-111990400	Weak transcription	Fetal Lung	lung
48	chr7:111985400-111990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:111985400-111991200	Weak transcription	Dnd41	blood
50	chr7:111985400-111991400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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