Variant report

Variant	rs4140847
Chromosome Location	chr7:86783263-86783264
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:86780737-86783963	IMR90	lung:	n/a	n/a
2	UBTF	chr7:86781182-86783455	K562	blood:	n/a	n/a
3	CHD1	chr7:86782885-86783291	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:86780462-86784128	K562	blood:	n/a	n/a
5	IRF1	chr7:86781195-86783532	K562	blood:	n/a	chr7:86782838-86782858 chr7:86782867-86782876
6	CHD1	chr7:86780747-86784269	IMR90	lung:	n/a	n/a
7	MXI1	chr7:86780012-86784875	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr7:86782417-86783341	Hela-S3	cervix:	n/a	chr7:86783184-86783197 chr7:86783186-86783197 chr7:86783186-86783197
9	TAL1	chr7:86780603-86783664	K562	blood:	n/a	n/a
10	GATA1	chr7:86781295-86783385	PBDE	blood:	n/a	chr7:86783361-86783377 chr7:86782839-86782846 chr7:86783358-86783379 chr7:86783365-86783372 chr7:86783365-86783372 chr7:86782866-86782875 chr7:86782839-86782849 chr7:86781865-86781875 chr7:86783365-86783374 chr7:86783365-86783372
11	CEBPB	chr7:86782604-86783385	K562	blood:	n/a	chr7:86783184-86783197 chr7:86783186-86783197 chr7:86783186-86783197
12	NR2F2	chr7:86780634-86783360	K562	blood:	n/a	n/a
13	POLR2A	chr7:86780760-86783658	MCF10A-Er-Src	breast:	n/a	n/a
14	SREBP2	chr7:86780244-86783700	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:86780556-86784560	K562	blood:	n/a	n/a
16	MXI1	chr7:86780642-86783660	GM12878	blood:	n/a	n/a
17	ARID3A	chr7:86780215-86784160	K562	blood:	n/a	n/a
18	POLR2A	chr7:86782812-86783864	K562	blood:	n/a	n/a
19	POLR2A	chr7:86780291-86795664	K562	blood:	n/a	n/a
20	PML	chr7:86780834-86783615	K562	blood:	n/a	n/a
21	FOS	chr7:86782700-86783301	MCF10A-Er-Src	breast:	n/a	chr7:86782864-86782875 chr7:86782868-86782876 chr7:86782866-86782878
22	JUN	chr7:86782666-86783309	K562	blood:	n/a	chr7:86782864-86782875 chr7:86782868-86782876 chr7:86782866-86782878
23	IRF1	chr7:86780321-86784074	K562	blood:	n/a	chr7:86782838-86782858 chr7:86782867-86782876
24	TBL1XR1	chr7:86780881-86783780	K562	blood:	n/a	n/a
25	CEBPB	chr7:86782668-86783279	IMR90	lung:	n/a	chr7:86783184-86783197 chr7:86783186-86783197 chr7:86783186-86783197
26	POLR2A	chr7:86780599-86783730	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86571988..86574729-chr7:86782180..86784743,2	K562	blood:
2	chr7:86780600..86784245-chr7:86826808..86830083,3	K562	blood:
3	chr7:86687491..86690694-chr7:86779646..86784102,7	MCF-7	breast:
4	chr7:86566998..86572829-chr7:86779731..86785521,7	MCF-7	breast:
5	chr7:86736144..86740329-chr7:86781903..86788552,7	K562	blood:
6	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
7	chr7:86780355..86788679-chr7:86845137..86851399,15	MCF-7	breast:
8	chr7:86686484..86692984-chr7:86778376..86787938,22	K562	blood:
9	chr7:86686668..86692984-chr7:86780038..86786500,15	K562	blood:
10	chr7:86687563..86690226-chr7:86779393..86784314,7	MCF-7	breast:
11	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
12	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

Variant related genes	Relation type
ENSG00000224046	TF binding region
DMTF1	TF binding region
ENSG00000135164	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000135185	Chromatin interaction
ENSG00000261462	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10085726	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10228392	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10231010	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238917	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10244350	0.90[CEU][hapmap]
rs1024457	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257953	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10273853	0.90[CEU][hapmap]
rs10952896	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859124	0.80[CEU][hapmap]
rs2057984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2074757	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108271	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108272	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190424	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2286268	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2373387	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2373388	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[EUR][1000 genomes]
rs3747807	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4400318	0.87[EUR][1000 genomes]
rs4639442	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4727146	0.87[EUR][1000 genomes]
rs4728686	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728689	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4728690	0.85[AMR][1000 genomes]
rs6465093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465101	0.87[EUR][1000 genomes]
rs6952384	0.87[EUR][1000 genomes]
rs6959152	0.81[CEU][hapmap]
rs6966613	0.92[AMR][1000 genomes]
rs6968640	0.91[CEU][hapmap]
rs6975202	0.87[EUR][1000 genomes]
rs757961	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765968	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7780698	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7810647	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886787	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86780400-86783600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:86780400-86783600	Active TSS	Fetal Lung	lung
3	chr7:86780400-86783600	Active TSS	K562	blood
4	chr7:86780400-86784200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:86780600-86783600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:86780600-86783800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:86780600-86783800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:86780600-86783800	Active TSS	Fetal Muscle Trunk	muscle
9	chr7:86780600-86784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:86780600-86784000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:86780600-86785200	Active TSS	NHLF	lung
12	chr7:86780600-86786000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:86780800-86783400	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr7:86780800-86783600	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:86780800-86783600	Active TSS	A549	lung
16	chr7:86780800-86783800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:86780800-86783800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:86780800-86783800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:86780800-86783800	Active TSS	Fetal Kidney	kidney
20	chr7:86780800-86784000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:86780800-86784000	Active TSS	Fetal Stomach	stomach
22	chr7:86780800-86784200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:86780800-86784400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:86780800-86784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:86780800-86784600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr7:86780800-86784600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr7:86780800-86785400	Active TSS	GM12878-XiMat	blood
28	chr7:86781000-86783400	Active TSS	Brain Angular Gyrus	brain
29	chr7:86781000-86783400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:86781000-86783600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:86781000-86783600	Active TSS	Colonic Mucosa	Colon
32	chr7:86781000-86783600	Active TSS	Thymus	Thymus
33	chr7:86781000-86783600	Active TSS	HSMM	muscle
34	chr7:86781000-86783800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:86781000-86783800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:86781000-86783800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:86781000-86784000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:86781000-86784000	Active TSS	Ovary	ovary
39	chr7:86781000-86784200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:86781000-86784200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:86781000-86784200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:86781000-86784200	Active TSS	Fetal Muscle Leg	muscle
43	chr7:86781000-86784200	Active TSS	NHDF-Ad	bronchial
44	chr7:86781000-86785200	Active TSS	Psoas Muscle	Psoas
45	chr7:86781000-86786000	Active TSS	Aorta	Aorta
46	chr7:86781000-86786000	Active TSS	Right Ventricle	heart
47	chr7:86781200-86783400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:86781200-86783400	Active TSS	Osteobl	bone
49	chr7:86781200-86783600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:86781200-86783600	Active TSS	Muscle Satellite Cultured Cells	--

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