Variant report

Variant	rs11971363
Chromosome Location	chr7:86780807-86780808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

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	MXI1	chr7:86780660-86782199	K562	blood:	n/a	n/a
3	MYC	chr7:86780576-86782966	K562	blood:	n/a	n/a
4	POLR2A	chr7:86780800-86783072	GM12891	blood:	n/a	n/a
5	JUND	chr7:86780514-86783169	K562	blood:	n/a	chr7:86782537-86782549 chr7:86782864-86782875 chr7:86782868-86782876 chr7:86782866-86782878
6	RCOR1	chr7:86780525-86782811	K562	blood:	n/a	n/a
7	POLR2A	chr7:86780539-86783076	K562	blood:	n/a	n/a
8	POLR2A	chr7:86780462-86784128	K562	blood:	n/a	n/a
9	GTF2F1	chr7:86780485-86782876	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr7:86780436-86782265	K562	blood:	n/a	chr7:86780622-86780638 chr7:86780625-86780642
11	POLR2A	chr7:86780745-86783083	PBDE	blood:	n/a	n/a
12	MAFK	chr7:86780452-86781067	IMR90	lung:	n/a	chr7:86780622-86780638 chr7:86780625-86780642
13	POLR2A	chr7:86780791-86780833	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr7:86780418-86782520	Hela-S3	cervix:	n/a	chr7:86780622-86780638 chr7:86782396-86782411 chr7:86780625-86780642
15	POLR2A	chr7:86780794-86783128	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:86780406-86783012	K562	blood:	n/a	n/a
17	POLR2A	chr7:86780792-86782903	Hela-S3	cervix:	n/a	n/a
18	CHD1	chr7:86780747-86784269	IMR90	lung:	n/a	n/a
19	TEAD4	chr7:86780589-86783108	K562	blood:	n/a	n/a
20	MXI1	chr7:86780012-86784875	SK-N-SH	brain:	n/a	n/a
21	ELK1	chr7:86780770-86782217	K562	blood:	n/a	n/a
22	TAL1	chr7:86780603-86783664	K562	blood:	n/a	n/a
23	POLR2A	chr7:86780704-86783096	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr7:86780782-86783135	K562	blood:	n/a	n/a
25	POLR2A	chr7:86780502-86783110	K562	blood:	n/a	n/a
26	CREB1	chr7:86780760-86782994	K562	blood:	n/a	n/a
27	NR2F2	chr7:86780634-86783360	K562	blood:	n/a	n/a
28	BHLHE40	chr7:86780697-86782927	K562	blood:	n/a	n/a
29	POLR2A	chr7:86780760-86783658	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:86780739-86782761	K562	blood:	n/a	n/a
31	MXI1	chr7:86780678-86783025	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr7:86780438-86783056	K562	blood:	n/a	n/a
33	SREBP2	chr7:86780244-86783700	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:86780729-86782712	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:86780556-86784560	K562	blood:	n/a	n/a
36	TBP	chr7:86780472-86783025	K562	blood:	n/a	n/a
37	MXI1	chr7:86780642-86783660	GM12878	blood:	n/a	n/a
38	ARID3A	chr7:86780215-86784160	K562	blood:	n/a	n/a
39	POLR2A	chr7:86780642-86782693	K562	blood:	n/a	n/a
40	POLR2A	chr7:86780687-86782667	Raji	blood:	n/a	n/a
41	POLR2A	chr7:86780291-86795664	K562	blood:	n/a	n/a
42	POLR2A	chr7:86780732-86780880	MCF-7	breast:	n/a	n/a
43	RCOR1	chr7:86780785-86782564	Hela-S3	cervix:	n/a	n/a
44	IRF1	chr7:86780321-86784074	K562	blood:	n/a	chr7:86782838-86782858 chr7:86782867-86782876
45	MAFF	chr7:86780429-86781536	K562	blood:	n/a	n/a
46	POLR2A	chr7:86780732-86782901	SK-N-MC	brain:	n/a	n/a
47	HCFC1	chr7:86780336-86783210	Hela-S3	cervix:	n/a	n/a
48	PML	chr7:86780617-86783139	K562	blood:	n/a	n/a
49	POLR2A	chr7:86780494-86783055	K562	blood:	n/a	n/a
50	E2F4	chr7:86780441-86782227	MCF10A-Er-Src	breast:	n/a	chr7:86781620-86781631

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86780474..86782448-chr7:86847588..86849718,2	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	chr7:86780653..86784932-chr7:86790317..86796236,8	MCF-7	breast:
6	chr7:86780355..86788679-chr7:86845137..86851399,15	MCF-7	breast:
7	chr7:86686484..86692984-chr7:86778376..86787938,22	K562	blood:
8	chr7:86686668..86692984-chr7:86780038..86786500,15	K562	blood:
9	chr7:86549467..86551157-chr7:86778742..86780905,2	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:
13	chr19:48824441..48825214-chr7:86780676..86781433,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf23-1	chr7:86780756-86780974	ENSG00000224046
2	lnc-C7orf23-1	chr7:86780739-86780974	ENSG00000224046
3	lnc-C7orf23-1	chr7:86780741-86780974	NONHSAT121810
4	lnc-C7orf23-1	chr7:86780738-86780974	NONHSAT121809

No data

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000135185	Chromatin interaction
ENSG00000105479	Chromatin interaction
ENSG00000142227	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000200397	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11971364	0.85[YRI][hapmap]
rs11972360	1.00[YRI][hapmap]
rs11974238	0.85[YRI][hapmap]
rs11975035	0.82[YRI][hapmap]
rs11976564	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs11976589	0.85[YRI][hapmap]
rs11980996	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs11981115	0.85[YRI][hapmap]
rs11981403	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs11982198	0.85[YRI][hapmap]
rs11983532	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11983560	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs11983834	0.86[AFR][1000 genomes]
rs55891509	0.81[AFR][1000 genomes]
rs7779369	0.85[YRI][hapmap]
rs973044	1.00[ASW][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86778400-86781000	Weak transcription	Ovary	ovary
2	chr7:86780400-86781000	Enhancers	Liver	Liver
3	chr7:86780400-86781000	Flanking Active TSS	Hela-S3	cervix
4	chr7:86780400-86783600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:86780400-86783600	Active TSS	Fetal Lung	lung
6	chr7:86780400-86783600	Active TSS	K562	blood
7	chr7:86780400-86784200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:86780600-86781000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:86780600-86781000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:86780600-86781000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:86780600-86781000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:86780600-86781000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:86780600-86781000	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr7:86780600-86781000	Flanking Active TSS	Fetal Heart	heart
15	chr7:86780600-86781000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:86780600-86781000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:86780600-86781000	Flanking Active TSS	HepG2	liver
18	chr7:86780600-86781000	Flanking Active TSS	NHDF-Ad	bronchial
19	chr7:86780600-86781200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:86780600-86781200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:86780600-86781200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:86780600-86781200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:86780600-86781200	Flanking Active TSS	Dnd41	blood
24	chr7:86780600-86781200	Flanking Active TSS	HMEC	breast
25	chr7:86780600-86781200	Flanking Active TSS	NHEK	skin
26	chr7:86780600-86781200	Flanking Active TSS	Osteobl	bone
27	chr7:86780600-86781400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:86780600-86781400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:86780600-86781400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr7:86780600-86781400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:86780600-86781600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:86780600-86783600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:86780600-86783800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:86780600-86783800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:86780600-86783800	Active TSS	Fetal Muscle Trunk	muscle
36	chr7:86780600-86784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:86780600-86784000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:86780600-86785200	Active TSS	NHLF	lung
39	chr7:86780600-86786000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:86780800-86781000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:86780800-86781000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:86780800-86781000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:86780800-86781000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:86780800-86781000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:86780800-86781000	Enhancers	Primary B cells from cord blood	blood
46	chr7:86780800-86781000	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:86780800-86781000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr7:86780800-86781000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:86780800-86781000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:86780800-86781000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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