Variant report

Variant	rs677152
Chromosome Location	chr6:70991630-70991631
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	MYC	chr6:70991531-70992311	K562	blood:	n/a	chr6:70992069-70992079
2	MAX	chr6:70991592-70992623	K562	blood:	n/a	chr6:70992069-70992079
3	TEAD4	chr6:70991568-70992060	K562	blood:	n/a	n/a
4	CTBP2	chr6:70991548-70993379	H1-hESC	embryonic stem cell:	n/a	n/a
5	TRIM28	chr6:70991604-70992020	K562	blood:	n/a	n/a
6	E2F6	chr6:70991344-70993609	H1-hESC	embryonic stem cell:	n/a	chr6:70992756-70992765 chr6:70992199-70992210 chr6:70991625-70991634 chr6:70993017-70993027 chr6:70992222-70992233 chr6:70992511-70992518
7	TAL1	chr6:70991399-70992098	K562	blood:	n/a	n/a
8	TEAD4	chr6:70991536-70992102	K562	blood:	n/a	n/a
9	NR2F2	chr6:70991389-70992111	K562	blood:	n/a	n/a
10	RCOR1	chr6:70991613-70992360	K562	blood:	n/a	n/a
11	CCNT2	chr6:70991525-70992259	K562	blood:	n/a	n/a
12	PML	chr6:70991591-70992027	K562	blood:	n/a	n/a
13	NR2F2	chr6:70991568-70992015	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70991484..70995327-chr6:71011821..71017351,5	K562	blood:
2	chr6:70991053..70993906-chr6:71103584..71105214,3	K562	blood:

Variant related genes	Relation type
COL9A1	TF binding region
ENSG00000237643	Chromatin interaction
ENSG00000112280	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12190708	1.00[CHB][hapmap]
rs12190849	1.00[CHB][hapmap]
rs12199202	1.00[CHB][hapmap]
rs2068499	1.00[CHB][hapmap]
rs495823	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70984200-70992000	Weak transcription	Gastric	stomach
2	chr6:70987600-70992000	Weak transcription	Right Atrium	heart
3	chr6:70990000-70992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:70990000-70993400	Enhancers	Fetal Brain Male	brain
5	chr6:70990600-70992000	Weak transcription	Pancreas	Pancrea
6	chr6:70990600-70992200	Enhancers	Fetal Heart	heart
7	chr6:70990800-70992000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:70991200-70991800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:70991200-70991800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:70991200-70992000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:70991400-70991800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr6:70991400-70991800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:70991400-70991800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr6:70991400-70992200	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:70991400-70993200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr6:70991600-70991800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr6:70991600-70991800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr6:70991600-70991800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr6:70991600-70991800	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr6:70991600-70991800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:70991600-70992000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr6:70991600-70992000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:70991600-70992000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:70991600-70992000	Bivalent Enhancer	Brain Anterior Caudate	brain
25	chr6:70991600-70992000	Active TSS	Brain Germinal Matrix	brain
26	chr6:70991600-70992000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr6:70991600-70992200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr6:70991600-70992200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:70991600-70992200	Flanking Active TSS	K562	blood
30	chr6:70991600-70992400	Active TSS	Brain Substantia Nigra	brain
31	chr6:70991600-70992600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:70991600-70992800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:70991600-70992800	Bivalent Enhancer	Liver	Liver
34	chr6:70991600-70992800	Active TSS	Fetal Brain Female	brain
35	chr6:70991600-70993000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:70991600-70993000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
37	chr6:70991600-70993000	Bivalent Enhancer	Fetal Lung	lung
38	chr6:70991600-70993200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:70991600-70993200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr6:70991600-70993400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links