Variant report

Variant	rs6297
Chromosome Location	chr6:78171941-78171942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1145835	1.00[AFR][1000 genomes]
rs12173930	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12524589	1.00[AFR][1000 genomes]
rs13204128	1.00[AFR][1000 genomes]
rs1343488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];1.00[AFR][1000 genomes]
rs1778258	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62416431	0.92[ASN][1000 genomes]
rs62418262	1.00[AFR][1000 genomes]
rs7748725	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes]
rs9352485	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];1.00[AFR][1000 genomes]
rs9359274	1.00[AFR][1000 genomes]
rs9361238	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758062	chr6:78100020-78283042	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759445	chr6:78100020-78283042	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78169400-78172000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:78169400-78174600	Active TSS	Aorta	Aorta
3	chr6:78171000-78172400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:78171400-78172000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
5	chr6:78171400-78172200	Flanking Active TSS	NH-A	brain
6	chr6:78171400-78172600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:78171400-78172600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr6:78171400-78172800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr6:78171400-78173600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr6:78171400-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:78171400-78174600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:78171400-78174600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr6:78171600-78172000	Bivalent Enhancer	Fetal Brain Female	brain
14	chr6:78171600-78172000	Flanking Active TSS	HUVEC	blood vessel
15	chr6:78171600-78172000	Flanking Bivalent TSS/Enh	NHEK	skin
16	chr6:78171600-78172200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:78171600-78172400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr6:78171600-78172400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr6:78171600-78172400	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr6:78171600-78172600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:78171600-78172600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:78171600-78172600	Active TSS	HMEC	breast
23	chr6:78171600-78172800	Bivalent/Poised TSS	NHLF	lung
24	chr6:78171600-78173000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:78171600-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:78171600-78174600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:78171800-78172000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:78171800-78172000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:78171800-78172000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:78171800-78172000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr6:78171800-78172000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
32	chr6:78171800-78172000	Active TSS	Stomach Mucosa	stomach
33	chr6:78171800-78172200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr6:78171800-78172200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:78171800-78172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:78171800-78172200	Active TSS	Placenta	Placenta
37	chr6:78171800-78172400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr6:78171800-78172400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
39	chr6:78171800-78172400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr6:78171800-78172400	Active TSS	Gastric	stomach
41	chr6:78171800-78172600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
42	chr6:78171800-78173800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr6:78171800-78174200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:78171800-78174400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:78171800-78174400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr6:78171800-78174800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:78171800-78174800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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