Variant report

Variant	rs11983834
Chromosome Location	chr7:86792424-86792425
allele	A/G
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	chr7:86792215-86792635	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:86792321-86793489	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:86780291-86795664	K562	blood:	n/a	n/a
4	KAP1	chr7:86792419-86792766	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
2	chr7:86790614..86793453-chr7:87505751..87507414,2	K562	blood:

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000224046	Chromatin interaction
ENSG00000006634	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11971363	0.86[AFR][1000 genomes]
rs11971364	0.83[AFR][1000 genomes]
rs11974238	0.83[AFR][1000 genomes]
rs11976564	0.83[AFR][1000 genomes]
rs11976589	0.91[AFR][1000 genomes]
rs11976632	0.83[AFR][1000 genomes]
rs11980996	0.83[AFR][1000 genomes]
rs11981115	0.92[AFR][1000 genomes]
rs11981403	0.83[AFR][1000 genomes]
rs11982198	0.92[AFR][1000 genomes]
rs11983532	0.82[AFR][1000 genomes]
rs11983560	1.00[AFR][1000 genomes]
rs55813769	0.92[AFR][1000 genomes]
rs55817867	0.83[AFR][1000 genomes]
rs55823330	0.92[AFR][1000 genomes]
rs55971843	0.92[AFR][1000 genomes]
rs56397073	0.83[AFR][1000 genomes]
rs73204893	0.92[AFR][1000 genomes]
rs73204896	0.92[AFR][1000 genomes]
rs73206908	0.92[AFR][1000 genomes]
rs73206909	0.92[AFR][1000 genomes]
rs73206945	0.92[AFR][1000 genomes]
rs73206958	0.92[AFR][1000 genomes]
rs73206967	0.83[AFR][1000 genomes]
rs73206972	0.83[AFR][1000 genomes]
rs73206974	0.83[AFR][1000 genomes]
rs73206976	0.83[AFR][1000 genomes]
rs73206980	0.83[AFR][1000 genomes]
rs73206981	0.83[AFR][1000 genomes]
rs73206988	0.83[AFR][1000 genomes]
rs73206989	0.83[AFR][1000 genomes]
rs73206994	0.83[AFR][1000 genomes]
rs73206998	0.80[AFR][1000 genomes]
rs73207002	0.83[AFR][1000 genomes]
rs73208503	0.83[AFR][1000 genomes]
rs73208506	0.83[AFR][1000 genomes]
rs73208509	0.83[AFR][1000 genomes]
rs73208511	0.83[AFR][1000 genomes]
rs73208512	0.83[AFR][1000 genomes]
rs73208515	0.83[AFR][1000 genomes]
rs73208516	0.83[AFR][1000 genomes]
rs73208519	0.83[AFR][1000 genomes]
rs73208521	0.83[AFR][1000 genomes]
rs73208528	0.83[AFR][1000 genomes]
rs73208532	0.83[AFR][1000 genomes]
rs73208540	0.83[AFR][1000 genomes]
rs73208541	0.83[AFR][1000 genomes]
rs73208547	0.83[AFR][1000 genomes]
rs73208550	0.83[AFR][1000 genomes]
rs73208553	0.83[AFR][1000 genomes]
rs73210216	0.83[AFR][1000 genomes]
rs73210219	0.83[AFR][1000 genomes]
rs973044	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr7:86782600-86811400	Weak transcription	Spleen	Spleen
2	chr7:86782800-86798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:86782800-86798400	Weak transcription	Gastric	stomach
4	chr7:86782800-86810800	Weak transcription	Esophagus	oesophagus
5	chr7:86782800-86811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:86783000-86798000	Weak transcription	Lung	lung
7	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:86783200-86792600	Weak transcription	Placenta	Placenta
9	chr7:86783200-86799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:86783800-86792600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:86784000-86792600	Weak transcription	Left Ventricle	heart
12	chr7:86784000-86794200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:86784000-86796000	Weak transcription	Colonic Mucosa	Colon
14	chr7:86784200-86792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:86784200-86796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:86784600-86792600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:86784600-86792600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:86784600-86792600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:86784600-86792800	Weak transcription	Thymus	Thymus
20	chr7:86784600-86793600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:86784600-86794800	Weak transcription	HSMMtube	muscle
22	chr7:86784600-86799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:86784800-86792800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:86784800-86792800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:86785000-86795800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:86785600-86792600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:86785600-86794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:86785600-86813400	Weak transcription	Stomach Mucosa	stomach
29	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:86785800-86794200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:86786000-86792600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:86786000-86792600	Weak transcription	Fetal Kidney	kidney
33	chr7:86786000-86792600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:86786000-86792800	Weak transcription	Fetal Intestine Large	intestine
35	chr7:86786000-86795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:86786000-86795200	Weak transcription	Aorta	Aorta
37	chr7:86786000-86795400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:86786000-86795400	Weak transcription	Psoas Muscle	Psoas
39	chr7:86786000-86795400	Weak transcription	Right Ventricle	heart
40	chr7:86786000-86797400	Weak transcription	Fetal Brain Male	brain
41	chr7:86786000-86801200	Weak transcription	Fetal Intestine Small	intestine
42	chr7:86786200-86792600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:86786200-86792600	Weak transcription	HMEC	breast
44	chr7:86786200-86792800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:86786400-86792600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:86786400-86792600	Weak transcription	A549	lung
47	chr7:86786400-86792800	Weak transcription	Brain Germinal Matrix	brain
48	chr7:86786400-86792800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:86786400-86794200	Weak transcription	Hela-S3	cervix
50	chr7:86786600-86792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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