Variant report

Variant	rs73206916
Chromosome Location	chr7:86789013-86789014
allele	C/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	chr7:86788628-86789266	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:86788747-86789332	GM12892	blood:	n/a	n/a
3	MEF2A	chr7:86788744-86789179	GM12878	blood:	n/a	chr7:86788949-86788970 chr7:86788848-86788857 chr7:86788843-86788864 chr7:86788843-86788864 chr7:86788846-86788857 chr7:86788843-86788864 chr7:86788953-86788968 chr7:86788949-86788970 chr7:86788953-86788969
4	POLR2A	chr7:86788914-86789126	GM12892	blood:	n/a	n/a
5	NFIC	chr7:86788714-86789184	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:86788599-86789148	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:86788854-86789233	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:86788929-86789175	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:86780291-86795664	K562	blood:	n/a	n/a
10	POLR2A	chr7:86788821-86789109	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:86787992-86789415	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF143	chr7:86788845-86789045	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:86788735-86789278	U87	brain:	n/a	n/a
14	POLR2A	chr7:86788735-86789357	U87	brain:	n/a	n/a
15	POLR2A	chr7:86788630-86789177	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86787322..86790184-chr7:86793047..86794551,2	MCF-7	breast:
2	chr7:86787017..86789055-chr7:86792968..86795917,2	MCF-7	breast:
3	chr7:86785961..86790922-chr7:86794752..86798878,5	MCF-7	breast:
4	chr7:86690033..86691580-chr7:86786714..86789542,2	K562	blood:
5	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

Variant related genes	Relation type
DMTF1	TF binding region
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]
rs73206905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:125 , 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	chr7:86783800-86789400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:86783800-86792600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:86784000-86789600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:86784000-86792600	Weak transcription	Left Ventricle	heart
14	chr7:86784000-86794200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:86784000-86796000	Weak transcription	Colonic Mucosa	Colon
16	chr7:86784200-86791400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:86784200-86792400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:86784200-86792400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:86784200-86792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:86784200-86796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:86784400-86789600	Weak transcription	Fetal Thymus	thymus
22	chr7:86784600-86792600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:86784600-86792600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:86784600-86792600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:86784600-86792800	Weak transcription	Thymus	Thymus
26	chr7:86784600-86793600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:86784600-86794800	Weak transcription	HSMMtube	muscle
28	chr7:86784600-86799600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:86784800-86789400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:86784800-86792800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:86784800-86792800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:86785000-86791400	Weak transcription	Fetal Stomach	stomach
33	chr7:86785000-86792400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:86785000-86795800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:86785400-86792000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:86785600-86792600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:86785600-86794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:86785600-86813400	Weak transcription	Stomach Mucosa	stomach
39	chr7:86785600-86822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:86785800-86789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:86785800-86794200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:86786000-86789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:86786000-86789800	Weak transcription	Liver	Liver
44	chr7:86786000-86791400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:86786000-86791400	Weak transcription	Small Intestine	intestine
46	chr7:86786000-86792600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:86786000-86792600	Weak transcription	Fetal Kidney	kidney
48	chr7:86786000-86792600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:86786000-86792800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:86786000-86795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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