Variant report

Variant	rs4307293
Chromosome Location	chr7:56020113-56020114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
2	chr7:56018384..56020889-chr7:56129856..56132224,2	K562	blood:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
5	chr7:56018165..56022272-chr7:56129856..56132253,4	K562	blood:

Variant related genes	Relation type
ENSG00000129103	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13223519	1.00[JPT][hapmap]
rs13228321	0.85[ASN][1000 genomes]
rs13240361	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs2304375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34822782	1.00[CHB][hapmap]
rs34885337	1.00[ASW][hapmap]
rs35347055	1.00[CHB][hapmap]
rs35881493	1.00[CHB][hapmap]
rs3816089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4947527	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4947531	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4947532	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4948087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4948089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv981772	chr7:56009678-56020897	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56018400-56020400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:56018600-56020600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:56018600-56020800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:56019000-56020200	Active TSS	Brain Germinal Matrix	brain
5	chr7:56019000-56020200	Active TSS	Psoas Muscle	Psoas
6	chr7:56019000-56020200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:56019000-56020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:56019000-56020400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:56019000-56020400	Active TSS	Duodenum Mucosa	Duodenum
10	chr7:56019000-56020400	Active TSS	Fetal Intestine Small	intestine
11	chr7:56019000-56020400	Active TSS	Fetal Kidney	kidney
12	chr7:56019000-56020400	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:56019000-56020400	Active TSS	A549	lung
14	chr7:56019000-56020400	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:56019000-56020600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:56019000-56020600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:56019000-56020800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:56019000-56020800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:56019200-56020200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:56019200-56020200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:56019200-56020200	Active TSS	Colon Smooth Muscle	Colon
22	chr7:56019200-56020200	Active TSS	Fetal Intestine Large	intestine
23	chr7:56019200-56020200	Active TSS	Gastric	stomach
24	chr7:56019200-56020200	Active TSS	Left Ventricle	heart
25	chr7:56019200-56020200	Active TSS	Right Ventricle	heart
26	chr7:56019200-56020400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:56019200-56020400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:56019200-56020400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:56019200-56020400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:56019200-56020400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:56019200-56020400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:56019200-56020400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:56019200-56020400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr7:56019200-56020400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr7:56019200-56020400	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:56019200-56020400	Active TSS	Brain Hippocampus Middle	brain
37	chr7:56019200-56020400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:56019200-56020400	Active TSS	Fetal Lung	lung
39	chr7:56019200-56020400	Active TSS	Ovary	ovary
40	chr7:56019200-56020400	Active TSS	Right Atrium	heart
41	chr7:56019200-56020400	Active TSS	HMEC	breast
42	chr7:56019200-56020400	Active TSS	HSMM	muscle
43	chr7:56019200-56020400	Active TSS	HSMMtube	muscle
44	chr7:56019200-56020400	Active TSS	HUVEC	blood vessel
45	chr7:56019200-56020400	Active TSS	NH-A	brain
46	chr7:56019200-56020400	Active TSS	NHEK	skin
47	chr7:56019200-56020400	Active TSS	NHLF	lung
48	chr7:56019200-56020600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr7:56019200-56020600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:56019200-56020600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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