Variant report

Variant	rs4294126
Chromosome Location	chr7:101707303-101707304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101705153..101708097-chr7:101711212..101713863,3	K562	blood:
2	chr7:101459264..101462006-chr7:101705742..101707719,3	MCF-7	breast:
3	chr7:101706528..101709517-chr7:101721356..101724154,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10268506	1.00[CHB][hapmap]
rs365397	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375417	0.82[CEU][hapmap]
rs376183	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs377587	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405073	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs411844	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	0.93[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101674200-101707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:101689400-101714600	Weak transcription	HSMMtube	muscle
3	chr7:101689800-101714800	Weak transcription	NHLF	lung
4	chr7:101690600-101713800	Weak transcription	Fetal Lung	lung
5	chr7:101690600-101713800	Weak transcription	Ovary	ovary
6	chr7:101697600-101711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:101697800-101709800	Weak transcription	Thymus	Thymus
8	chr7:101697800-101711800	Weak transcription	HepG2	liver
9	chr7:101698000-101712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:101699800-101712000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:101700000-101713800	Weak transcription	Aorta	Aorta
12	chr7:101703800-101713400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:101704200-101712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:101704800-101707800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:101704800-101708800	Enhancers	Placenta	Placenta
16	chr7:101705200-101708600	Enhancers	Fetal Heart	heart
17	chr7:101705400-101707600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:101705400-101712400	Weak transcription	Primary B cells from cord blood	blood
19	chr7:101705600-101709800	Weak transcription	Dnd41	blood
20	chr7:101705600-101713800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:101705600-101714800	Weak transcription	Fetal Kidney	kidney
22	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
23	chr7:101705800-101707800	Enhancers	GM12878-XiMat	blood
24	chr7:101705800-101713200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:101706000-101707600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:101706000-101712600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:101706200-101708600	Enhancers	Fetal Stomach	stomach
28	chr7:101706200-101708600	Enhancers	K562	blood
29	chr7:101706400-101707800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:101706400-101708200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:101706400-101708400	Enhancers	HMEC	breast
32	chr7:101706400-101708600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:101706400-101708600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:101706400-101708600	Enhancers	Stomach Mucosa	stomach
35	chr7:101706400-101708800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:101706400-101708800	Enhancers	Fetal Muscle Leg	muscle
37	chr7:101706600-101707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:101706600-101707400	Enhancers	NHEK	skin
39	chr7:101706600-101708800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:101706800-101708800	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:101706800-101709000	Flanking Active TSS	Hela-S3	cervix
42	chr7:101707000-101707400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:101707000-101707400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:101707000-101707400	Enhancers	Fetal Intestine Large	intestine
45	chr7:101707000-101707600	Enhancers	HSMM	muscle
46	chr7:101707000-101707800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:101707000-101707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:101707000-101707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:101707000-101707800	Enhancers	Fetal Intestine Small	intestine
50	chr7:101707000-101707800	Flanking Active TSS	A549	lung

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