Variant report

Variant	rs6471516
Chromosome Location	chr8:96100477-96100478
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	MAX	chr8:96099615-96100560	NB4	blood:	n/a	n/a
2	TCF3	chr8:96100160-96100544	GM12878	blood:	n/a	chr8:96100300-96100310 chr8:96100298-96100312
3	POLR2A	chr8:96099845-96100582	HL-60	blood:	n/a	n/a
4	POLR2A	chr8:96099959-96100668	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:96099728-96100538	HL-60	blood:	n/a	n/a
6	MYC	chr8:96099806-96100627	NB4	blood:	n/a	n/a
7	MAX	chr8:96100146-96100493	Hela-S3	cervix:	n/a	n/a
8	EBF1	chr8:96099900-96100610	GM12878	blood:	n/a	n/a
9	CTCF	chr8:96100400-96100550	GM12864	blood:	n/a	chr8:96100403-96100413
10	EBF1	chr8:96099905-96100536	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
2	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
3	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
4	chr8:96037114..96038810-chr8:96100451..96102525,2	K562	blood:

Variant related genes	Relation type
ENSG00000254248	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11776091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11781181	0.84[CEU][hapmap]
rs13276468	0.87[EUR][1000 genomes]
rs1466169	0.84[CEU][hapmap]
rs1561714	0.84[CEU][hapmap]
rs1561715	0.84[CEU][hapmap]
rs1975425	0.84[CEU][hapmap]
rs2044034	0.84[CEU][hapmap]
rs2583365	0.82[CEU][hapmap]
rs2599706	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2678841	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs297550	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4392868	0.84[CEU][hapmap]
rs4735344	0.84[CEU][hapmap]
rs7000568	0.84[CEU][hapmap]
rs7000734	0.84[CEU][hapmap]
rs7008499	0.93[EUR][1000 genomes]
rs7014866	0.83[EUR][1000 genomes]
rs7822998	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96097600-96100800	Enhancers	Placenta	Placenta
3	chr8:96098000-96100800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr8:96098000-96100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:96098200-96100800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:96098400-96101800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:96098400-96102400	Weak transcription	Stomach Mucosa	stomach
8	chr8:96098600-96101800	Weak transcription	Gastric	stomach
9	chr8:96098600-96101800	Weak transcription	HUVEC	blood vessel
10	chr8:96098600-96102000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:96098600-96102200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:96098600-96102200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:96098600-96102400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
15	chr8:96098800-96102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:96098800-96102200	Weak transcription	Thymus	Thymus
17	chr8:96098800-96102400	Weak transcription	Dnd41	blood
18	chr8:96098800-96103800	Weak transcription	HepG2	liver
19	chr8:96099200-96100600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:96099200-96100800	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:96099600-96100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:96099600-96101800	Enhancers	GM12878-XiMat	blood
23	chr8:96099800-96100800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:96099800-96100800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:96099800-96101600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:96100000-96100600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:96100000-96100600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:96100000-96100600	Enhancers	Primary B cells from cord blood	blood
29	chr8:96100000-96100600	Enhancers	Spleen	Spleen
30	chr8:96100000-96100800	Enhancers	Esophagus	oesophagus
31	chr8:96100000-96100800	Enhancers	Fetal Thymus	thymus
32	chr8:96100000-96100800	Enhancers	Hela-S3	cervix
33	chr8:96100000-96100800	Enhancers	HMEC	breast
34	chr8:96100000-96101800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:96100000-96101800	Enhancers	K562	blood
36	chr8:96100000-96104200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:96100200-96100600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:96100200-96100600	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:96100200-96100600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:96100200-96100600	Enhancers	Colonic Mucosa	Colon
41	chr8:96100200-96100600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:96100200-96100600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:96100200-96100600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:96100200-96100600	Enhancers	NHDF-Ad	bronchial
45	chr8:96100200-96102000	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:96100400-96100600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:96100400-96100600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:96100400-96100600	Enhancers	Osteobl	bone
49	chr8:96100400-96103200	Enhancers	NHEK	skin
50	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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