Variant report

Variant	rs540384
Chromosome Location	chr6:147832362-147832363
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	chr6:147832320..147833864-chr6:147834224..147836196,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1222119	0.87[CEU][hapmap]
rs1631864	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1789696	0.89[CEU][hapmap]
rs1789697	0.90[CEU][hapmap]
rs1789698	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780850	0.86[CEU][hapmap]
rs471833	0.87[CEU][hapmap]
rs472577	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs473720	0.87[ASN][1000 genomes]
rs4896920	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs494234	0.87[CEU][hapmap]
rs494395	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536996	0.87[CEU][hapmap]
rs537817	0.87[CEU][hapmap]
rs538563	0.87[CEU][hapmap]
rs607474	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs609205	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs609963	0.94[CEU][hapmap]
rs618181	0.87[CEU][hapmap]
rs623379	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs634979	0.86[CEU][hapmap]
rs636447	0.87[CEU][hapmap]
rs648995	0.87[CEU][hapmap]
rs650375	0.87[CEU][hapmap]
rs655698	0.87[CEU][hapmap]
rs660814	0.87[CEU][hapmap]
rs666217	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66812182	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669830	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6923561	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020122	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][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	nsv604841	chr6:147832156-148193929	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147827800-147834000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
3	chr6:147828800-147832400	Active TSS	Fetal Intestine Small	intestine
4	chr6:147828800-147832600	Active TSS	Brain Anterior Caudate	brain
5	chr6:147829400-147832400	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr6:147830600-147832600	Bivalent Enhancer	HepG2	liver
7	chr6:147831000-147832600	Flanking Active TSS	Liver	Liver
8	chr6:147831000-147832600	Flanking Active TSS	Fetal Lung	lung
9	chr6:147831000-147832600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:147831200-147832600	Bivalent/Poised TSS	Fetal Brain Male	brain
11	chr6:147831400-147832400	Active TSS	NHLF	lung
12	chr6:147831400-147832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:147831400-147836400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:147831400-147838800	Weak transcription	Esophagus	oesophagus
15	chr6:147831600-147832400	Enhancers	Ovary	ovary
16	chr6:147831600-147832400	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr6:147831600-147832600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:147831600-147832600	Enhancers	A549	lung
19	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:147831800-147832400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:147831800-147832400	Flanking Active TSS	Fetal Stomach	stomach
22	chr6:147831800-147832400	Enhancers	NHEK	skin
23	chr6:147831800-147832600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:147832000-147832400	Enhancers	HUVEC	blood vessel
25	chr6:147832000-147832600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr6:147832000-147832600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr6:147832000-147832600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:147832000-147832600	Transcr. at gene 5' and 3'	HSMM	muscle
29	chr6:147832000-147839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:147832200-147832400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:147832200-147832400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr6:147832200-147832400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:147832200-147832400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:147832200-147832400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr6:147832200-147832400	Flanking Bivalent TSS/Enh	Placenta	Placenta
36	chr6:147832200-147832400	Enhancers	Gastric	stomach
37	chr6:147832200-147832400	Flanking Active TSS	HSMMtube	muscle
38	chr6:147832200-147832600	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:147832200-147832600	Enhancers	HMEC	breast
40	chr6:147832200-147832600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links