Variant report

Variant	rs7776634
Chromosome Location	chr7:86822104-86822105
allele	C/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	chr7:86814801-86827543	GM12891	blood:	n/a	n/a
2	MTA3	chr7:86822032-86822785	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:86822035-86825637	GM12892	blood:	n/a	n/a
4	NFATC1	chr7:86821974-86824362	GM12878	blood:	n/a	chr7:86824181-86824194
5	POLR2A	chr7:86822098-86823949	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:86813301-86827649	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:86822000-86823864	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:86821706-86823779	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:86822004-86823913	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:86821992-86822485	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:86822017-86823899	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:86819363-86833788	K562	blood:	n/a	n/a
13	NFATC1	chr7:86821949-86823698	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:86821996-86823891	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:86822044-86823881	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:86822009-86823868	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:86822025-86822731	SK-N-SH	brain:	n/a	n/a
18	PML	chr7:86821591-86825297	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:86816541-86827484	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:86822075-86822130	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:86822015-86825450	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:86822101-86823883	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:86821968-86823914	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86810436..86811963-chr7:86820253..86823079,2	K562	blood:

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1011952	0.94[EUR][1000 genomes]
rs1011953	0.94[EUR][1000 genomes]
rs10245036	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10263920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10273826	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs1058972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1558050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1574795	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2106955	0.94[EUR][1000 genomes]
rs2286267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810883	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4236504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4728685	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728688	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4728690	0.95[JPT][hapmap]
rs6465099	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6465100	0.87[EUR][1000 genomes]
rs6942878	0.95[EUR][1000 genomes]
rs6952842	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6957785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6966613	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6975175	0.87[EUR][1000 genomes]
rs6978590	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs757159	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes]
rs769156	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7792031	0.82[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7793356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	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	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
5	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
6	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
7	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
8	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
9	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:86786600-86828400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:86788600-86830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:86788600-86832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:86789000-86832400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:86789000-86832400	Strong transcription	Dnd41	blood
8	chr7:86789400-86830800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:86789600-86832400	Strong transcription	Fetal Thymus	thymus
10	chr7:86789800-86833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:86791000-86831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:86791200-86829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:86791400-86830000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:86791400-86831800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:86791400-86831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:86791600-86830600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr7:86791600-86830600	Strong transcription	NHDF-Ad	bronchial
18	chr7:86791800-86831000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:86792000-86829200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:86792400-86827200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:86792400-86828600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:86792400-86828600	Strong transcription	HUVEC	blood vessel
23	chr7:86792400-86829800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:86792400-86831600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:86792600-86824000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:86792600-86828800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:86792600-86829800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr7:86792600-86830800	Strong transcription	Primary B cells from cord blood	blood
29	chr7:86792600-86832200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:86793400-86833400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:86794000-86823200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:86794200-86832200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr7:86803400-86831400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:86804600-86832400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr7:86807000-86832200	Strong transcription	HSMM	muscle
36	chr7:86808600-86827800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:86808600-86828400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:86808600-86828800	Strong transcription	Liver	Liver
39	chr7:86808600-86830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:86808800-86826800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:86808800-86827600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:86808800-86827800	Strong transcription	Placenta	Placenta
43	chr7:86808800-86829200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:86808800-86830600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:86809400-86829400	Strong transcription	Fetal Intestine Large	intestine
46	chr7:86809800-86826800	Strong transcription	Primary T cells from cord blood	blood
47	chr7:86810200-86827600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:86810200-86829000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:86810600-86827600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:86810600-86828600	Strong transcription	Adipose Nuclei	Adipose

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