Variant report

Variant	rs9380488
Chromosome Location	chr6:35055190-35055191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34977724..34979255-chr6:35054061..35055761,2	K562	blood:
2	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:
3	chr6:35054576..35057054-chr6:35059180..35061237,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16872324	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872484	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057537	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296194	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756855	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6457803	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6908059	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6940278	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73745098	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73745102	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348962	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs9348965	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9348966	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9357194	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9380491	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs9380492	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380493	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs960716	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv869750	chr6:35031548-35085585	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3422350	chr6:35054024-35056822	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
3	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:35021800-35055400	Weak transcription	HSMM	muscle
5	chr6:35024800-35062000	Weak transcription	A549	lung
6	chr6:35025600-35056000	Strong transcription	Liver	Liver
7	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:35036200-35059200	Strong transcription	Primary T cells from cord blood	blood
10	chr6:35036800-35056200	Strong transcription	Fetal Stomach	stomach
11	chr6:35037000-35061800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:35039400-35060600	Strong transcription	Fetal Intestine Large	intestine
13	chr6:35040000-35057000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:35041800-35056800	Weak transcription	Fetal Heart	heart
15	chr6:35042200-35059200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:35044400-35058800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:35044600-35057600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:35044600-35058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:35044800-35055600	Strong transcription	Aorta	Aorta
20	chr6:35044800-35056800	Strong transcription	Rectal Smooth Muscle	rectum
21	chr6:35044800-35057800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:35044800-35058800	Strong transcription	Gastric	stomach
23	chr6:35044800-35059000	Strong transcription	Left Ventricle	heart
24	chr6:35045000-35057000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:35045000-35057000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:35045000-35057800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:35045000-35059000	Strong transcription	Pancreas	Pancrea
28	chr6:35045200-35057000	Strong transcription	Fetal Brain Female	brain
29	chr6:35045200-35057400	Strong transcription	Ovary	ovary
30	chr6:35045200-35057800	Strong transcription	Brain Germinal Matrix	brain
31	chr6:35045200-35059400	Strong transcription	Thymus	Thymus
32	chr6:35045400-35056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:35045600-35057200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr6:35046200-35055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:35046400-35057800	Strong transcription	Fetal Lung	lung
36	chr6:35049200-35056800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:35049600-35058800	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr6:35049600-35060200	Weak transcription	Psoas Muscle	Psoas
39	chr6:35049800-35055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:35049800-35056600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:35050000-35055800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:35050000-35056800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:35050000-35057200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:35050000-35059800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:35050000-35063800	Weak transcription	HUVEC	blood vessel
46	chr6:35050200-35056000	Strong transcription	Esophagus	oesophagus
47	chr6:35050200-35056600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr6:35050200-35056600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:35050200-35056600	Strong transcription	Fetal Thymus	thymus
50	chr6:35050200-35056800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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