Variant report

Variant	rs6986750
Chromosome Location	chr8:61616515-61616516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61563289..61565598-chr8:61614731..61616834,3	MCF-7	breast:
2	chr8:61610380..61613389-chr8:61616371..61618193,3	MCF-7	breast:
3	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
4	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
5	chr8:61601943..61604368-chr8:61616321..61619419,3	K562	blood:
6	chr8:61602668..61604287-chr8:61616194..61618289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13262318	0.82[EUR][1000 genomes]
rs16926379	1.00[CEU][hapmap]
rs41304212	0.88[EUR][1000 genomes]
rs6988200	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7004550	0.89[YRI][hapmap];0.92[AFR][1000 genomes]
rs7013969	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
2	chr8:61597000-61619800	Weak transcription	HMEC	breast
3	chr8:61598200-61619800	Weak transcription	HepG2	liver
4	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
6	chr8:61606400-61620400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:61607200-61619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:61607400-61619800	Weak transcription	Fetal Lung	lung
9	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
10	chr8:61607600-61620400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:61609200-61619800	Weak transcription	HSMM	muscle
12	chr8:61609200-61620400	Weak transcription	NH-A	brain
13	chr8:61610600-61620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:61612400-61617400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:61612600-61622000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:61613200-61616800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:61613400-61619800	Weak transcription	Gastric	stomach
18	chr8:61613600-61616800	Enhancers	Brain Hippocampus Middle	brain
19	chr8:61613600-61616800	Weak transcription	Pancreas	Pancrea
20	chr8:61613600-61617800	Enhancers	Brain Anterior Caudate	brain
21	chr8:61613600-61619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:61613600-61619800	Weak transcription	Stomach Mucosa	stomach
23	chr8:61613600-61620400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:61613600-61620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:61613600-61621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:61613600-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:61613600-61621000	Weak transcription	Lung	lung
28	chr8:61613800-61620400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:61614200-61617000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:61614200-61619000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:61614600-61617400	Enhancers	Right Ventricle	heart
32	chr8:61614600-61619000	Enhancers	Brain Substantia Nigra	brain
33	chr8:61614600-61619800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:61614800-61616800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:61614800-61620000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:61615000-61616600	Enhancers	Brain Angular Gyrus	brain
37	chr8:61615000-61617600	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:61615200-61616600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:61615200-61617200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:61615200-61620400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:61615200-61620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:61615200-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:61615400-61617400	Enhancers	Left Ventricle	heart
44	chr8:61615400-61617600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:61615400-61618000	Enhancers	Primary T cells from cord blood	blood
46	chr8:61615400-61619800	Weak transcription	HSMMtube	muscle
47	chr8:61615400-61620400	Weak transcription	K562	blood
48	chr8:61615600-61617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:61615600-61619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:61615600-61621000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links