Variant report

Variant	rs7858520
Chromosome Location	chr9:96712908-96712909
allele	G/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	SUZ12	chr9:96709708-96717433	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr9:96711573-96713153	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr9:96710652-96717425	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr9:96712224-96712953	Hela-S3	cervix:	n/a	n/a
5	STAT1	chr9:96712093-96713277	Hela-S3	cervix:	n/a	chr9:96712509-96712518 chr9:96712508-96712517 chr9:96712231-96712243 chr9:96712796-96712804
6	MAZ	chr9:96712390-96712980	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:96711482-96713707	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:96710015..96712729-chr9:96712737..96714256,2	MCF-7	breast:
2	chr9:96711387..96714258-chr9:96716250..96718266,3	K562	blood:
3	chr9:96706258..96707958-chr9:96711820..96714339,2	MCF-7	breast:
4	chr9:96710465..96712948-chr9:96713592..96715312,2	MCF-7	breast:
5	chr9:96443001..96444886-chr9:96710905..96713769,2	MCF-7	breast:
6	chr9:96701424..96703213-chr9:96710660..96713568,2	MCF-7	breast:
7	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:
8	chr9:96664499..96666537-chr9:96711318..96713769,2	MCF-7	breast:
9	chr9:96705528..96708010-chr9:96711810..96713358,2	K562	blood:
10	chr9:96712195..96712948-chr9:96722190..96722787,2	MCF-7	breast:
11	chr9:96338597..96340419-chr9:96710594..96713429,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235601	TF binding region
ENSG00000197724	Chromatin interaction
ENSG00000131668	Chromatin interaction
ENSG00000235601	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10821274	0.87[AFR][1000 genomes]
rs10993017	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11788035	0.86[AFR][1000 genomes]
rs11788160	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11789015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11792744	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11793856	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12001386	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12684081	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13283836	0.87[AFR][1000 genomes]
rs1411861	0.89[EUR][1000 genomes]
rs1933680	0.86[AFR][1000 genomes]
rs1933681	0.86[AFR][1000 genomes]
rs2095777	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2153791	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2398893	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34849895	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35001304	0.85[AFR][1000 genomes]
rs35480828	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35886839	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4316201	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5014099	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55947603	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56285369	0.85[EUR][1000 genomes]
rs56335449	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62574323	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62574346	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7034685	0.86[AFR][1000 genomes]
rs7849645	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96708600-96713000	Weak transcription	Gastric	stomach
2	chr9:96709000-96713200	Weak transcription	Right Atrium	heart
3	chr9:96710400-96713000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr9:96710600-96713800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:96711000-96713000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr9:96711000-96713000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:96711000-96713200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr9:96711200-96713200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:96711400-96713000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr9:96711400-96713200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr9:96711600-96713000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr9:96711600-96713000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr9:96711600-96713000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:96711600-96713200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:96711600-96715600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr9:96711800-96713000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr9:96711800-96713000	Weak transcription	Pancreas	Pancrea
18	chr9:96711800-96713200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:96712000-96713000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr9:96712000-96713000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr9:96712000-96713000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:96712000-96713200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:96712000-96713200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:96712200-96713200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:96712400-96713000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:96712400-96713000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr9:96712400-96713000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr9:96712400-96713000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr9:96712400-96713200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr9:96712600-96713000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr9:96712600-96713000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr9:96712600-96713200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr9:96712600-96714000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:96712800-96713000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
35	chr9:96712800-96713000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:96712800-96713000	Active TSS	Stomach Smooth Muscle	stomach
37	chr9:96712800-96713000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr9:96712800-96713200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr9:96712800-96713200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:96712800-96713200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr9:96712800-96713400	Bivalent Enhancer	Fetal Lung	lung
42	chr9:96712800-96713400	Enhancers	Spleen	Spleen
43	chr9:96712800-96713600	Flanking Active TSS	Hela-S3	cervix
44	chr9:96712800-96713800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr9:96712800-96714800	Bivalent/Poised TSS	HSMM	muscle

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