Variant report

Variant	rs2514757
Chromosome Location	chr8:119125596-119125597
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	TCF12	chr8:119125375-119125973	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:119125545-119125889	SH-SY5Y	brain:	n/a	n/a
3	STAT3	chr8:119125203-119125622	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF1	chr8:119124958-119125894	PFSK-1	brain:	n/a	n/a
5	TFAP2C	chr8:119124931-119125810	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr8:119125116-119126111	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr8:119125299-119125662	Hela-S3	cervix:	n/a	n/a
8	MAX	chr8:119125210-119125761	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr8:119125372-119126074	SK-N-SH	brain:	n/a	n/a
10	RCOR1	chr8:119125561-119125897	K562	blood:	n/a	n/a
11	POLR2A	chr8:119123599-119125623	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr8:119125187-119125616	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
14	POLR2A	chr8:119122800-119125674	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr8:119125421-119125921	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr8:119123807-119125645	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr8:119125053-119125597	PANC-1	pancreas:	n/a	n/a
18	FOS	chr8:119125251-119125598	MCF10A-Er-Src	breast:	n/a	chr8:119125403-119125413
19	MYC	chr8:119125044-119125641	MCF10A-Er-Src	breast:	n/a	chr8:119125057-119125066
20	RAD21	chr8:119119998-119126465	SK-N-SH	brain:	n/a	chr8:119125772-119125782
21	RCOR1	chr8:119125210-119125679	HepG2	liver:	n/a	n/a
22	KAP1	chr8:119124730-119125743	HEK293	kidney:	n/a	n/a
23	E2F4	chr8:119125299-119125598	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr8:119125529-119125923	SK-N-SH_RA	brain:	n/a	n/a
25	NFYA	chr8:119125483-119125703	Hela-S3	cervix:	n/a	n/a
26	EP300	chr8:119125220-119125862	SK-N-SH_RA	brain:	n/a	n/a
27	CHD2	chr8:119125186-119125683	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr8:119125063-119125606	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr8:119119438-119125957	IMR90	lung:	n/a	n/a
30	GATA2	chr8:119124796-119126277	SH-SY5Y	brain:	n/a	n/a
31	POLR2A	chr8:119121745-119125796	HepG2	liver:	n/a	n/a
32	KAP1	chr8:119125054-119125707	U2OS	brain:	n/a	n/a
33	TFAP2A	chr8:119125096-119125655	Hela-S3	cervix:	n/a	chr8:119125438-119125448 chr8:119125436-119125451
34	MXI1	chr8:119125178-119125753	HepG2	liver:	n/a	n/a
35	REST	chr8:119125175-119125878	PFSK-1	brain:	n/a	chr8:119125662-119125680
36	CTCF	chr8:119125500-119125650	NHEK	skin:	n/a	n/a
37	POLR2A	chr8:119122799-119125669	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr8:119125193-119125626	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr8:119124952-119125596	MCF10A-Er-Src	breast:	n/a	chr8:119125057-119125066
40	POLR2A	chr8:119123667-119125880	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr8:119125546-119125855	SK-N-SH	brain:	n/a	n/a
42	CHD1	chr8:119115687-119126076	IMR90	lung:	n/a	chr8:119123550-119123560
43	FOS	chr8:119125194-119125688	MCF10A-Er-Src	breast:	n/a	chr8:119125403-119125413
44	POLR2A	chr8:119123475-119125651	ProgFib	skin:	n/a	n/a
45	POLR2A	chr8:119118909-119125793	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr8:119123737-119125637	SK-N-MC	brain:	n/a	n/a
47	RAD21	chr8:119125551-119125898	SK-N-SH_RA	brain:	n/a	chr8:119125772-119125782
48	POLR2A	chr8:119120741-119125873	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr8:119123015-119125601	Hela-S3	cervix:	n/a	n/a
50	RAD21	chr8:119124913-119125842	IMR90	lung:	n/a	chr8:119125772-119125782

No.	Distal block	Cell Line	Cell type
1	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:
2	chr8:119124285..119125855-chr8:119134931..119136550,3	K562	blood:
3	chr8:119108619..119110803-chr8:119124925..119127142,2	K562	blood:
4	chr8:119124285..119125818-chr8:119134931..119136512,2	K562	blood:

Variant related genes	Relation type
EXT1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2445922	0.82[JPT][hapmap]
rs2451133	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs2451142	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2468136	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468137	0.89[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.81[LWK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2468156	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514759	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897829	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[EUR][1000 genomes]
rs921957	1.00[CEU][hapmap];0.92[TSI][hapmap];0.83[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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119124400-119125600	Flanking Active TSS	NH-A	brain
2	chr8:119124600-119125600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:119124600-119125600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:119124600-119125600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:119124600-119125600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr8:119124600-119125600	Flanking Active TSS	Stomach Mucosa	stomach
7	chr8:119124600-119125600	Flanking Active TSS	Hela-S3	cervix
8	chr8:119124600-119125600	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr8:119124600-119125800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119124600-119125800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:119124600-119125800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:119124600-119125800	Flanking Active TSS	NHLF	lung
13	chr8:119124600-119125800	Flanking Active TSS	Osteobl	bone
14	chr8:119124600-119126400	Enhancers	Fetal Heart	heart
15	chr8:119124800-119125600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr8:119124800-119125600	Enhancers	Brain Angular Gyrus	brain
17	chr8:119124800-119125600	Enhancers	Right Ventricle	heart
18	chr8:119124800-119125800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:119124800-119125800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:119124800-119125800	Enhancers	Esophagus	oesophagus
21	chr8:119124800-119125800	Enhancers	Fetal Intestine Large	intestine
22	chr8:119124800-119125800	Enhancers	Placenta	Placenta
23	chr8:119124800-119125800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:119124800-119125800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:119124800-119125800	Enhancers	Thymus	Thymus
26	chr8:119124800-119126000	Enhancers	Fetal Intestine Small	intestine
27	chr8:119124800-119126200	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:119124800-119126200	Enhancers	Fetal Thymus	thymus
29	chr8:119124800-119126400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:119124800-119126400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:119124800-119126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:119124800-119128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:119124800-119128400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:119124800-119128600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:119124800-119136200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:119125000-119125600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:119125000-119125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:119125000-119125600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:119125000-119125600	Enhancers	Dnd41	blood
40	chr8:119125000-119125600	Enhancers	HSMMtube	muscle
41	chr8:119125000-119125800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:119125000-119125800	Enhancers	Aorta	Aorta
43	chr8:119125000-119125800	Enhancers	Small Intestine	intestine
44	chr8:119125000-119126200	Enhancers	Colonic Mucosa	Colon
45	chr8:119125000-119126400	Enhancers	Fetal Lung	lung
46	chr8:119125000-119126400	Enhancers	HUVEC	blood vessel
47	chr8:119125000-119128000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:119125000-119128400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:119125000-119128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:119125000-119128400	Weak transcription	GM12878-XiMat	blood

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