Variant report

Variant	rs6997862
Chromosome Location	chr8:126120852-126120853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126102968..126106954-chr8:126119806..126124843,7	MCF-7	breast:
2	chr8:126117610..126119168-chr8:126119754..126122274,2	MCF-7	breast:
3	chr8:126116223..126117724-chr8:126119342..126121125,2	K562	blood:
4	chr8:126111855..126116017-chr8:126120644..126122400,3	MCF-7	breast:
5	chr8:126119028..126121570-chr8:126439846..126443976,3	MCF-7	breast:
6	chr8:126112265..126115118-chr8:126118237..126122453,5	MCF-7	breast:
7	chr8:126102057..126105558-chr8:126119918..126121740,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1004350	1.00[JPT][hapmap]
rs1004676	1.00[JPT][hapmap]
rs10089574	1.00[JPT][hapmap]
rs10105624	1.00[JPT][hapmap]
rs10113495	1.00[JPT][hapmap]
rs10505449	1.00[JPT][hapmap]
rs10505450	1.00[JPT][hapmap]
rs10505451	1.00[JPT][hapmap]
rs11985518	1.00[JPT][hapmap]
rs11987707	0.90[CHB][hapmap]
rs11993478	1.00[JPT][hapmap]
rs11993484	1.00[JPT][hapmap]
rs11993487	1.00[JPT][hapmap]
rs11996035	1.00[JPT][hapmap]
rs11996868	1.00[JPT][hapmap]
rs12056336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12679295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16900175	1.00[JPT][hapmap]
rs16900180	1.00[JPT][hapmap]
rs16900215	1.00[JPT][hapmap]
rs16900221	1.00[JPT][hapmap]
rs16900222	1.00[JPT][hapmap]
rs16900228	1.00[JPT][hapmap]
rs16900250	1.00[JPT][hapmap]
rs16900266	1.00[JPT][hapmap]
rs16900269	1.00[JPT][hapmap]
rs16900307	1.00[JPT][hapmap]
rs16900369	1.00[JPT][hapmap]
rs16900457	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16900461	1.00[CEU][hapmap]
rs1802526	1.00[JPT][hapmap]
rs2009959	1.00[JPT][hapmap]
rs2272682	1.00[JPT][hapmap]
rs2288311	1.00[JPT][hapmap]
rs2293985	1.00[JPT][hapmap]
rs2303521	1.00[JPT][hapmap]
rs2303524	1.00[JPT][hapmap]
rs2303527	1.00[JPT][hapmap]
rs2303528	1.00[JPT][hapmap]
rs2303529	1.00[JPT][hapmap]
rs2303530	1.00[JPT][hapmap]
rs2891636	1.00[JPT][hapmap]
rs2891655	1.00[JPT][hapmap]
rs3736666	1.00[JPT][hapmap]
rs3736667	1.00[JPT][hapmap]
rs3763595	1.00[JPT][hapmap]
rs3765213	1.00[JPT][hapmap]
rs3765214	1.00[JPT][hapmap]
rs3793446	1.00[JPT][hapmap]
rs3815873	1.00[JPT][hapmap]
rs3860841	1.00[JPT][hapmap]
rs4355790	1.00[JPT][hapmap]
rs4421364	1.00[JPT][hapmap]
rs4421365	1.00[JPT][hapmap]
rs4425776	1.00[JPT][hapmap]
rs4458896	1.00[JPT][hapmap]
rs4481615	0.83[ASN][1000 genomes]
rs4570178	1.00[JPT][hapmap]
rs4570179	1.00[JPT][hapmap]
rs55839055	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56326134	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57252921	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57905807	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58179901	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58383711	0.83[ASN][1000 genomes]
rs58805022	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59056247	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60494467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470330	1.00[JPT][hapmap]
rs6470331	1.00[JPT][hapmap]
rs6470332	1.00[JPT][hapmap]
rs6470333	1.00[JPT][hapmap]
rs6470334	1.00[JPT][hapmap]
rs6470335	1.00[JPT][hapmap]
rs6651231	1.00[JPT][hapmap]
rs6651232	1.00[JPT][hapmap]
rs6981156	1.00[JPT][hapmap]
rs6981164	1.00[JPT][hapmap]
rs6982708	1.00[JPT][hapmap]
rs6984988	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988747	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988871	1.00[CEU][hapmap]
rs6992545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997418	0.81[EUR][1000 genomes]
rs6997658	0.83[ASN][1000 genomes]
rs7002224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002684	1.00[JPT][hapmap]
rs7002783	1.00[JPT][hapmap]
rs7010813	0.90[CHB][hapmap]
rs7010992	0.90[CHB][hapmap]
rs7014707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015295	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017497	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73348122	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348148	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73348187	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73349893	0.83[ASN][1000 genomes]
rs73351205	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73351208	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73704543	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73704549	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73704556	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7812319	1.00[JPT][hapmap]
rs7817303	1.00[JPT][hapmap]
rs7822618	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7823372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7825799	0.90[CHB][hapmap]
rs7827336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833107	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7837996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7839274	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7844453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297710	1.00[JPT][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS 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
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 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	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
4	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
5	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
6	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
8	chr8:126105600-126122600	Weak transcription	Stomach Mucosa	stomach
9	chr8:126108600-126122200	Weak transcription	NHEK	skin
10	chr8:126113400-126121600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
12	chr8:126114200-126123000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:126114400-126121200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:126114400-126121200	Strong transcription	Liver	Liver
16	chr8:126114400-126122000	Strong transcription	Dnd41	blood
17	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:126114600-126121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:126115800-126122600	Weak transcription	NH-A	brain
20	chr8:126116200-126121400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:126116400-126121200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr8:126116800-126122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:126117000-126122800	Weak transcription	HSMM	muscle
24	chr8:126117200-126122200	Weak transcription	NHLF	lung
25	chr8:126117200-126122600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:126117200-126123200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:126117200-126131000	Weak transcription	Colonic Mucosa	Colon
28	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
29	chr8:126117400-126121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:126117400-126122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:126117400-126122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:126117400-126122800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:126117400-126123200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:126117400-126131200	Weak transcription	Brain Germinal Matrix	brain
35	chr8:126117400-126131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:126117400-126132800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:126117400-126132800	Weak transcription	Left Ventricle	heart
38	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
39	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
40	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
41	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
43	chr8:126117600-126122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:126117600-126122400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:126117600-126122600	Weak transcription	K562	blood
46	chr8:126117600-126122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:126117600-126123200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:126117600-126123200	Weak transcription	Small Intestine	intestine
49	chr8:126117600-126125800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:126117600-126130800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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