Variant report

Variant	rs2237331
Chromosome Location	chr7:26210306-26210307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26194900..26196889-chr7:26209966..26213234,3	MCF-7	breast:
2	chr7:26209588..26214635-chr7:26216506..26225474,18	K562	blood:
3	chr7:26209206..26212038-chr7:26236061..26238347,2	K562	blood:
4	chr7:26208099..26210370-chr7:26211210..26213726,2	K562	blood:
5	chr7:26209015..26211740-chr7:26220518..26222809,3	MCF-7	breast:
6	chr7:26205068..26207055-chr7:26209247..26211585,2	K562	blood:
7	chr7:26040752..26042589-chr7:26209168..26210697,2	K562	blood:
8	chr7:26204181..26207055-chr7:26208718..26211585,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122566	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10233641	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs10247665	0.82[ASN][1000 genomes]
rs10265394	1.00[CEU][hapmap]
rs12113404	1.00[CEU][hapmap]
rs12672536	1.00[CEU][hapmap]
rs2059903	0.85[EUR][1000 genomes]
rs2391265	0.85[CEU][hapmap]
rs6461919	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976408	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
5	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26196600-26222000	Weak transcription	Left Ventricle	heart
2	chr7:26198800-26222000	Weak transcription	Spleen	Spleen
3	chr7:26199400-26222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:26199800-26210400	Weak transcription	Pancreas	Pancrea
6	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:26200800-26210800	Weak transcription	HepG2	liver
8	chr7:26206000-26210800	Weak transcription	Colonic Mucosa	Colon
9	chr7:26206600-26219600	Weak transcription	K562	blood
10	chr7:26206600-26220600	Weak transcription	Right Atrium	heart
11	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
12	chr7:26206800-26226000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:26207000-26220200	Weak transcription	Right Ventricle	heart
14	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:26207000-26227400	Weak transcription	Gastric	stomach
16	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:26207200-26210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:26207200-26218000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:26207200-26224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:26207400-26210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:26207400-26211200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:26207400-26219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:26207400-26221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:26207400-26224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:26207400-26227800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:26207600-26218400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:26207600-26227000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:26207600-26227400	Weak transcription	Primary T cells from cord blood	blood
32	chr7:26207800-26218000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:26207800-26218000	Weak transcription	Fetal Intestine Small	intestine
34	chr7:26207800-26223200	Weak transcription	Fetal Thymus	thymus
35	chr7:26208000-26226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
37	chr7:26208200-26211400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:26208400-26211200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:26208600-26222400	Weak transcription	Lung	lung
40	chr7:26208800-26211000	Strong transcription	Thymus	Thymus
41	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:26209000-26210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:26209000-26210400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:26209000-26222000	Weak transcription	Placenta	Placenta
45	chr7:26209200-26210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:26209200-26210400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:26209200-26210400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:26209200-26211000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:26209200-26212200	Weak transcription	Aorta	Aorta
50	chr7:26209200-26213600	Weak transcription	H1 Cell Line	embryonic stem cell

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