Variant report

Variant	rs6730620
Chromosome Location	chr2:191231987-191231988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11544940	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693568	0.83[ASN][1000 genomes]
rs1530225	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1530226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067446	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291430	0.83[ASN][1000 genomes]
rs291468	0.82[ASN][1000 genomes]
rs35277625	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791809	0.91[ASN][1000 genomes]
rs56044907	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434387	0.83[ASN][1000 genomes]
rs909270	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909272	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6730620	HIBCH	cis	multi-tissue	Pritchard
rs6730620	HIBCH	cis	Muscle Skeletal	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:191219600-191243800	Weak transcription	Gastric	stomach
4	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
5	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
6	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:191225000-191232000	Weak transcription	Ovary	ovary
8	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
9	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
10	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
12	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
14	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
15	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
16	chr2:191225200-191232000	Weak transcription	HepG2	liver
17	chr2:191225200-191232000	Weak transcription	Osteobl	bone
18	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:191225200-191233800	Weak transcription	NHLF	lung
21	chr2:191225200-191234400	Weak transcription	K562	blood
22	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
27	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
29	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:191225200-191236600	Weak transcription	NH-A	brain
33	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
35	chr2:191225200-191237000	Weak transcription	HMEC	breast
36	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:191225200-191238200	Weak transcription	NHEK	skin
39	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
40	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
41	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:191225400-191232200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:191225400-191236200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:191225400-191237200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:191225400-191239200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:191225600-191232400	Weak transcription	NHDF-Ad	bronchial
47	chr2:191225800-191234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:191226000-191232400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:191226000-191232800	Weak transcription	HSMM	muscle
50	chr2:191226000-191237000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links