Variant report

Variant	rs73206905
Chromosome Location	chr7:86784623-86784624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:86784572-86784684	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:86784614-86784841	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:86784592-86785057	K562	blood:	n/a	n/a
4	MXI1	chr7:86780012-86784875	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr7:86784373-86784670	HepG2	liver:	n/a	chr7:86784504-86784515
6	POLR2A	chr7:86780291-86795664	K562	blood:	n/a	n/a
7	CEBPB	chr7:86784355-86784696	K562	blood:	n/a	chr7:86784504-86784515

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86571988..86574729-chr7:86782180..86784743,2	K562	blood:
2	chr7:86783728..86785764-chr7:87525334..87528223,2	K562	blood:
3	chr7:86566998..86572829-chr7:86779731..86785521,7	MCF-7	breast:
4	chr7:86736144..86740329-chr7:86781903..86788552,7	K562	blood:
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	chr7:86681094..86683952-chr7:86784208..86786605,2	K562	blood:
10	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
11	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224046	TF binding region
ENSG00000135164	Chromatin interaction
ENSG00000135185	Chromatin interaction
ENSG00000200397	Chromatin interaction
ENSG00000006634	Chromatin interaction
ENSG00000261462	Chromatin interaction
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11762311	0.86[AMR][1000 genomes]
rs11769063	0.86[AMR][1000 genomes]
rs11771569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11971131	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11978231	0.83[AMR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55750589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55834411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56378450	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73202978	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73202980	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73202982	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73202993	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73204819	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73204890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73204892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73204895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73208546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73210234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210242	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210250	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73210264	0.95[AMR][1000 genomes];0.82[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	chr7:86780600-86785200	Active TSS	NHLF	lung
2	chr7:86780600-86786000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:86780800-86785400	Active TSS	GM12878-XiMat	blood
4	chr7:86781000-86785200	Active TSS	Psoas Muscle	Psoas
5	chr7:86781000-86786000	Active TSS	Aorta	Aorta
6	chr7:86781000-86786000	Active TSS	Right Ventricle	heart
7	chr7:86782200-86785800	Active TSS	Right Atrium	heart
8	chr7:86782600-86811400	Weak transcription	Spleen	Spleen
9	chr7:86782800-86785000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr7:86782800-86798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:86782800-86798400	Weak transcription	Gastric	stomach
12	chr7:86782800-86810800	Weak transcription	Esophagus	oesophagus
13	chr7:86782800-86811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:86783000-86784800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr7:86783000-86798000	Weak transcription	Lung	lung
16	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:86783200-86784800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:86783200-86785000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:86783200-86785000	Flanking Active TSS	HUVEC	blood vessel
20	chr7:86783200-86786000	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:86783200-86786600	Enhancers	Brain Substantia Nigra	brain
22	chr7:86783200-86787000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:86783200-86792600	Weak transcription	Placenta	Placenta
24	chr7:86783200-86799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:86783400-86784800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:86783400-86784800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:86783400-86784800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:86783400-86786000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:86783400-86788000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:86783600-86784800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
31	chr7:86783600-86784800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:86783600-86784800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:86783600-86785800	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:86783600-86786000	Enhancers	Small Intestine	intestine
35	chr7:86783600-86786200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:86783600-86786200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:86783600-86786800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:86783600-86787400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:86783800-86784800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
40	chr7:86783800-86784800	Flanking Active TSS	Fetal Brain Female	brain
41	chr7:86783800-86786400	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:86783800-86786600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:86783800-86786600	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr7:86783800-86786800	Transcr. at gene 5' and 3'	K562	blood
45	chr7:86783800-86787200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:86783800-86787600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:86783800-86789400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:86783800-86792600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:86784000-86784800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:86784000-86784800	Flanking Active TSS	Brain Germinal Matrix	brain

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