Variant report

Variant	rs3130379
Chromosome Location	chr6:30325531-30325532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30325158..30326032-chr6:30421070..30422057,4	K562	blood:
2	chr6:30206034..30206638-chr6:30324993..30325644,2	MCF-7	breast:
3	chr6:30325016..30326378-chr6:30364305..30365879,10	K562	blood:
4	chr6:30318532..30322622-chr6:30323241..30327325,5	K562	blood:
5	chr6:30324851..30326934-chr6:30328624..30330610,2	MCF-7	breast:
6	chr6:30325032..30326080-chr6:30364681..30365329,7	MCF-7	breast:
7	chr6:30325083..30325836-chr6:30364496..30366117,4	MCF-7	breast:
8	chr6:30323144..30325675-chr6:30329322..30331763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236475	Chromatin interaction
ENSG00000224372	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1245218	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3094055	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3130379	ZNF192	cis	parietal	SCAN
rs3130379	ZNF204P	cis	parietal	SCAN
rs3130379	HCG22	cis	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30313800-30325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
5	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
6	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:30315000-30325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:30315000-30325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:30315000-30325600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:30316000-30325600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:30316200-30325800	Weak transcription	Gastric	stomach
12	chr6:30323600-30325600	Weak transcription	Aorta	Aorta
13	chr6:30324800-30325600	Weak transcription	Spleen	Spleen
14	chr6:30324800-30326400	Active TSS	Colon Smooth Muscle	Colon
15	chr6:30325000-30325600	Active TSS	Esophagus	oesophagus
16	chr6:30325000-30325600	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:30325000-30326200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr6:30325200-30325600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr6:30325200-30325600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr6:30325200-30325600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:30325200-30325600	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr6:30325200-30325600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:30325200-30325600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr6:30325200-30326000	Bivalent Enhancer	Placenta	Placenta
25	chr6:30325400-30325600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:30325400-30325600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
27	chr6:30325400-30325600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr6:30325400-30325600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr6:30325400-30325600	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
30	chr6:30325400-30325600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:30325400-30325600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30325400-30325600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:30325400-30325600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:30325400-30325600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:30325400-30325600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:30325400-30325600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:30325400-30325600	Active TSS	Fetal Intestine Small	intestine
38	chr6:30325400-30325600	Bivalent/Poised TSS	HUVEC	blood vessel
39	chr6:30325400-30325600	Bivalent/Poised TSS	NHDF-Ad	bronchial
40	chr6:30325400-30325800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:30325400-30325800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:30325400-30325800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:30325400-30326000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr6:30325400-30326400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:30325400-30326400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr6:30325400-30326400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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