Variant report

Variant	rs6920327
Chromosome Location	chr6:144714766-144714767
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	YY1	chr6:144714613-144714840	GM12878	blood:	n/a	chr6:144714743-144714751 chr6:144714742-144714752 chr6:144714741-144714749 chr6:144714730-144714752
2	YY1	chr6:144714605-144714838	K562	blood:	n/a	chr6:144714743-144714751 chr6:144714742-144714752 chr6:144714741-144714749 chr6:144714730-144714752

Variant related genes	Relation type
ENSG00000219409	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28402811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301321	0.91[AFR][1000 genomes]
rs4538732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910059	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6912337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920634	1.00[ASN][1000 genomes]
rs6936691	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7755700	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9484872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496955	0.87[AFR][1000 genomes]
rs9496956	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9496963	0.89[EUR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3384550	chr6:144714753-144714933	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:144697200-144732600	Weak transcription	Gastric	stomach
3	chr6:144700600-144719200	Weak transcription	Ovary	ovary
4	chr6:144700800-144716000	Weak transcription	NHLF	lung
5	chr6:144700800-144719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:144700800-144719000	Weak transcription	Esophagus	oesophagus
7	chr6:144700800-144719000	Weak transcription	Spleen	Spleen
8	chr6:144702800-144720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:144703200-144719000	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:144703400-144717600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:144703800-144718600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:144704000-144718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:144704000-144719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:144705800-144722600	Weak transcription	Psoas Muscle	Psoas
15	chr6:144706200-144718200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:144707600-144716000	Weak transcription	Osteobl	bone
17	chr6:144707600-144717800	Weak transcription	Dnd41	blood
18	chr6:144707600-144719000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:144707600-144719000	Weak transcription	Aorta	Aorta
20	chr6:144707600-144719000	Weak transcription	Pancreas	Pancrea
21	chr6:144708400-144715800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:144708400-144716200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:144709000-144716400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:144709000-144716800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:144709000-144719200	Weak transcription	Fetal Kidney	kidney
26	chr6:144709200-144715000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:144709400-144718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:144709600-144718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:144710000-144716400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:144710200-144719000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:144710600-144716000	Weak transcription	HSMM	muscle
32	chr6:144711800-144728000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:144712000-144726400	Weak transcription	HSMMtube	muscle
34	chr6:144712200-144715400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:144712200-144715800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr6:144712400-144715400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:144712400-144720800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:144712400-144722800	Weak transcription	Right Ventricle	heart
39	chr6:144712600-144715600	Weak transcription	HUVEC	blood vessel
40	chr6:144712600-144719000	Weak transcription	Left Ventricle	heart
41	chr6:144712600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:144712800-144719000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:144713000-144718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:144713000-144719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:144713200-144719000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:144713400-144715600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:144713600-144715000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:144713600-144715200	Strong transcription	Primary B cells from cord blood	blood
49	chr6:144713800-144715200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:144713800-144719000	Weak transcription	Fetal Lung	lung

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