Variant report

Variant	rs2348665
Chromosome Location	chr7:47994281-47994282
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	chr7:47991487-47994764	K562	blood:	n/a	n/a
2	NFATC1	chr7:47993476-47994594	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:47993659-47994347	GM12892	blood:	n/a	n/a
4	STAT5A	chr7:47994050-47994527	GM12878	blood:	n/a	n/a
5	FOXM1	chr7:47993359-47994598	GM12878	blood:	n/a	n/a
6	BCL3	chr7:47994087-47994559	GM12878	blood:	n/a	n/a
7	MEF2A	chr7:47994113-47994452	GM12878	blood:	n/a	n/a
8	NFIC	chr7:47994000-47994545	GM12878	blood:	n/a	chr7:47994304-47994320 chr7:47994303-47994320
9	RUNX3	chr7:47994003-47994519	GM12878	blood:	n/a	n/a
10	EP300	chr7:47994260-47994349	GM12878	blood:	n/a	n/a
11	MTA3	chr7:47993304-47994761	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:47992844-47994479	Hela-S3	cervix:	n/a	n/a
13	ATF2	chr7:47993317-47994536	GM12878	blood:	n/a	n/a
14	STAT5A	chr7:47994079-47994482	GM12878	blood:	n/a	n/a
15	CEBPB	chr7:47993147-47994623	GM12878	blood:	n/a	chr7:47993883-47993895
16	FOS	chr7:47994253-47994478	MCF10A-Er-Src	breast:	n/a	n/a
17	PML	chr7:47993145-47994614	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:47994219-47994376	GM12878	blood:	n/a	n/a
19	CREB1	chr7:47993396-47994588	GM12878	blood:	n/a	n/a
20	NFATC1	chr7:47993384-47994522	GM12878	blood:	n/a	n/a
21	NFIC	chr7:47993146-47994680	GM12878	blood:	n/a	chr7:47994304-47994320 chr7:47994303-47994320
22	RUNX3	chr7:47993223-47994704	GM12878	blood:	n/a	n/a
23	MTA3	chr7:47993224-47994532	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47987905..47990629-chr7:47991579..47994285,2	K562	blood:

Variant related genes	Relation type
ENSG00000225507	TF binding region
ENSG00000158683	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10261436	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10499669	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12667562	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12669119	0.98[EUR][1000 genomes]
rs17131948	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2307252	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3176491	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3176568	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3176581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3176595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36213466	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4720625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075223	0.98[EUR][1000 genomes]
rs59023024	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59920101	0.94[EUR][1000 genomes]
rs62447088	0.98[EUR][1000 genomes]
rs62447089	0.98[EUR][1000 genomes]
rs62447093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695940	0.98[EUR][1000 genomes]
rs885338	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:47981200-47995600	Weak transcription	Aorta	Aorta
4	chr7:47982000-47999400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:47983600-47994400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:47983600-48001000	Weak transcription	NHLF	lung
7	chr7:47983800-47995800	Weak transcription	NHDF-Ad	bronchial
8	chr7:47984800-47996000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:47985000-48001400	Weak transcription	Hela-S3	cervix
10	chr7:47985200-47995000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:47985200-47995400	Weak transcription	Fetal Heart	heart
12	chr7:47985400-47995800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:47985600-48000600	Weak transcription	Ovary	ovary
14	chr7:47986400-48003800	Weak transcription	Fetal Brain Male	brain
15	chr7:47986800-48001800	Weak transcription	NHEK	skin
16	chr7:47987200-47994400	Weak transcription	Right Ventricle	heart
17	chr7:47988600-47994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:47990000-47995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:47990000-48000600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:47990600-47995600	Weak transcription	Brain Substantia Nigra	brain
21	chr7:47990600-47995800	Weak transcription	Right Atrium	heart
22	chr7:47990600-48000600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:47991000-48001400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:47991400-48001000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:47991400-48003600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:47991400-48004800	Weak transcription	Fetal Kidney	kidney
27	chr7:47991600-47994400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:47991600-48000600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:47991600-48000600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:47992000-47995400	Weak transcription	K562	blood
31	chr7:47992000-48000400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:47992000-48000600	Weak transcription	Brain Germinal Matrix	brain
33	chr7:47992000-48001600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:47992000-48001600	Weak transcription	Pancreas	Pancrea
35	chr7:47992000-48002400	Weak transcription	HepG2	liver
36	chr7:47992000-48004400	Weak transcription	Stomach Mucosa	stomach
37	chr7:47992200-48005200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:47992400-48000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:47992400-48000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:47992400-48000600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:47992600-47995000	Enhancers	HSMMtube	muscle
42	chr7:47992600-47996800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:47992600-47996800	Strong transcription	Primary B cells from cord blood	blood
44	chr7:47992600-48000400	Weak transcription	Fetal Brain Female	brain
45	chr7:47992800-47995800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:47992800-47995800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:47992800-48000600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:47993000-47994400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:47993000-47995000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:47993000-47995200	Strong transcription	Fetal Stomach	stomach

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