Variant report

Variant	rs7812590
Chromosome Location	chr8:121458163-121458164
allele	A/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	BRCA1	chr8:121457256-121458227	Hela-S3	cervix:	n/a	n/a
2	CUX1	chr8:121457306-121458328	K562	blood:	n/a	n/a
3	E2F4	chr8:121457221-121458432	MCF10A-Er-Src	breast:	n/a	chr8:121457406-121457413 chr8:121457406-121457413 chr8:121457405-121457414 chr8:121457406-121457413
4	TBP	chr8:121457162-121458263	Hela-S3	cervix:	n/a	chr8:121457515-121457526
5	REST	chr8:121456702-121458178	H1-neurons	neurons:	n/a	chr8:121457430-121457439
6	HCFC1	chr8:121456654-121458709	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:121456586-121458167	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:121456685-121458506	K562	blood:	n/a	n/a
9	GABPA	chr8:121456434-121458568	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:121458040-121458190	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:
2	chr8:121451054..121453168-chr8:121457842..121461614,3	K562	blood:

Variant related genes	Relation type
MRPL13	TF binding region
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.98[ASN][1000 genomes]
rs10109431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955971	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs1129080	0.93[ASN][1000 genomes]
rs1129353	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs11780830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781786	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12545308	0.93[ASN][1000 genomes]
rs12546007	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674727	0.97[ASN][1000 genomes]
rs12675235	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676755	0.94[ASN][1000 genomes]
rs12678531	0.98[ASN][1000 genomes]
rs12678788	1.00[ASN][1000 genomes]
rs12680641	0.94[ASN][1000 genomes]
rs13252173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263962	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16893976	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs4242313	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4448321	0.95[ASN][1000 genomes]
rs4452825	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4565499	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4573322	0.95[ASN][1000 genomes]
rs4590476	0.93[ASN][1000 genomes]
rs4871067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61203971	1.00[ASN][1000 genomes]
rs61424477	0.85[ASN][1000 genomes]
rs6415474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469920	0.91[ASN][1000 genomes]
rs6469921	0.91[ASN][1000 genomes]
rs6984090	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6985660	1.00[ASN][1000 genomes]
rs7002445	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7015443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73315165	1.00[ASN][1000 genomes]
rs73315171	1.00[ASN][1000 genomes]
rs73315174	0.98[ASN][1000 genomes]
rs73315182	0.98[ASN][1000 genomes]
rs7814949	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7818026	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs7819405	0.93[ASN][1000 genomes]
rs7826906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7832933	0.96[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7835198	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs7835363	1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs9297619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9650081	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr8:121455000-121458600	Active TSS	GM12878-XiMat	blood
2	chr8:121455800-121458200	Active TSS	Aorta	Aorta
3	chr8:121455800-121458800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:121456000-121458200	Active TSS	Colonic Mucosa	Colon
5	chr8:121456000-121458400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:121456000-121458400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:121456000-121458400	Active TSS	Ovary	ovary
8	chr8:121456000-121458400	Active TSS	Psoas Muscle	Psoas
9	chr8:121456000-121458400	Active TSS	Right Atrium	heart
10	chr8:121456000-121458400	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:121456000-121458600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:121456000-121458600	Active TSS	A549	lung
13	chr8:121456000-121458800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:121456200-121458200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:121456200-121458200	Active TSS	Brain Angular Gyrus	brain
16	chr8:121456200-121458200	Active TSS	Fetal Lung	lung
17	chr8:121456200-121458200	Active TSS	NHDF-Ad	bronchial
18	chr8:121456200-121458400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:121456200-121458400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:121456200-121458400	Active TSS	Fetal Intestine Large	intestine
21	chr8:121456200-121458400	Active TSS	Fetal Intestine Small	intestine
22	chr8:121456200-121458400	Active TSS	HMEC	breast
23	chr8:121456200-121458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:121456200-121458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:121456200-121458600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:121456200-121458600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:121456200-121458600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:121456200-121458600	Active TSS	Thymus	Thymus
29	chr8:121456200-121459000	Active TSS	K562	blood
30	chr8:121456200-121459600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:121456400-121458200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:121456400-121458200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:121456400-121458200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:121456400-121458200	Active TSS	Brain Hippocampus Middle	brain
35	chr8:121456400-121458200	Active TSS	Left Ventricle	heart
36	chr8:121456400-121458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:121456400-121458400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:121456400-121458400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:121456400-121458400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:121456400-121458400	Active TSS	Fetal Muscle Trunk	muscle
41	chr8:121456400-121458400	Active TSS	Right Ventricle	heart
42	chr8:121456400-121458600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr8:121456400-121458600	Active TSS	Fetal Kidney	kidney
44	chr8:121456400-121458800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:121456600-121458200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:121456600-121458200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:121456600-121458200	Active TSS	Fetal Heart	heart
48	chr8:121456600-121458200	Active TSS	Placenta	Placenta
49	chr8:121456600-121458200	Active TSS	HSMM	muscle
50	chr8:121456600-121458200	Active TSS	NHEK	skin

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