Variant report

Variant	rs2267697
Chromosome Location	chr7:139614498-139614499
allele	C/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	chr7:139560610..139563132-chr7:139613591..139615193,2	K562	blood:
2	chr7:139607014..139608551-chr7:139612909..139615880,2	K562	blood:
3	chr7:139614469..139616397-chr7:139665107..139667475,2	K562	blood:
4	chr7:139609932..139611578-chr7:139613494..139615788,2	MCF-7	breast:
5	chr7:139598082..139600623-chr7:139614374..139616919,2	K562	blood:
6	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:
7	chr7:139608918..139612096-chr7:139612765..139616269,8	K562	blood:
8	chr7:139612773..139615272-chr7:139618584..139621625,3	K562	blood:

No data

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015572	1.00[CEU][hapmap]
rs2267698	1.00[CEU][hapmap]
rs2284205	0.85[JPT][hapmap]
rs3801154	0.85[CEU][hapmap]
rs6464450	0.94[ASW][hapmap];1.00[CEU][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs6464451	1.00[CEU][hapmap]
rs6952982	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap]
rs6965165	1.00[CEU][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes]
rs7805971	1.00[CEU][hapmap]
rs8192813	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139607000-139615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:139608600-139615000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:139608600-139615200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:139608800-139615600	Strong transcription	Primary hematopoietic stem cells	blood
5	chr7:139609200-139615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:139609800-139615800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139611400-139614600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:139612200-139615400	Strong transcription	Fetal Thymus	thymus
10	chr7:139612400-139614600	Strong transcription	Thymus	Thymus
11	chr7:139612400-139615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:139612400-139618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:139612600-139615400	Strong transcription	Primary B cells from cord blood	blood
14	chr7:139612600-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:139612800-139615400	Strong transcription	Primary T cells from cord blood	blood
16	chr7:139612800-139617400	Enhancers	NHLF	lung
17	chr7:139612800-139617600	Enhancers	NHDF-Ad	bronchial
18	chr7:139613400-139615200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:139613400-139616000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:139613400-139616000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:139613600-139614600	Enhancers	Lung	lung
22	chr7:139613600-139616200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:139613600-139617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:139613800-139614800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:139613800-139615800	Enhancers	Osteobl	bone
26	chr7:139613800-139616200	Enhancers	HSMM	muscle
27	chr7:139613800-139617600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:139613800-139629800	Weak transcription	Spleen	Spleen
29	chr7:139614000-139616200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:139614000-139616800	Enhancers	Fetal Stomach	stomach
31	chr7:139614000-139617200	Enhancers	HUVEC	blood vessel
32	chr7:139614000-139617200	Enhancers	NH-A	brain
33	chr7:139614000-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:139614000-139617600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:139614000-139618600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:139614200-139614600	Enhancers	Aorta	Aorta
37	chr7:139614200-139614600	Enhancers	Pancreas	Pancrea
38	chr7:139614200-139614600	Enhancers	Psoas Muscle	Psoas
39	chr7:139614200-139614600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:139614200-139614800	Enhancers	Right Atrium	heart
41	chr7:139614200-139615600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:139614200-139615800	Enhancers	GM12878-XiMat	blood
43	chr7:139614200-139616000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:139614200-139616000	Enhancers	Hela-S3	cervix
45	chr7:139614200-139616000	Enhancers	NHEK	skin
46	chr7:139614200-139618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:139614200-139618200	Enhancers	HMEC	breast
48	chr7:139614200-139619600	Enhancers	HSMMtube	muscle
49	chr7:139614400-139614600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:139614400-139614600	Enhancers	Esophagus	oesophagus

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