Variant report

Variant	rs2184561
Chromosome Location	chr14:56270451-56270452
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56269404..56272163-chr14:56272459..56274714,3	MCF-7	breast:
3	chr14:56259091..56261693-chr14:56268032..56271082,3	K562	blood:
4	chr14:56266308..56267973-chr14:56270310..56271812,2	MCF-7	breast:
5	chr14:56259914..56261848-chr14:56268841..56271820,2	K562	blood:

Variant related genes	Relation type
ENSG00000258791	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10138273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145326	0.92[ASN][1000 genomes]
rs11622627	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11624516	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11625571	0.82[EUR][1000 genomes]
rs12883012	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1999705	0.82[EUR][1000 genomes]
rs1999706	0.82[EUR][1000 genomes]
rs2152275	0.88[ASN][1000 genomes]
rs2342594	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2342595	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34186256	0.86[EUR][1000 genomes]
rs34421003	0.82[EUR][1000 genomes]
rs34535564	0.86[EUR][1000 genomes]
rs35094937	0.87[EUR][1000 genomes]
rs35559254	0.81[EUR][1000 genomes]
rs35813917	0.87[EUR][1000 genomes]
rs36112734	0.86[EUR][1000 genomes]
rs36120082	0.86[EUR][1000 genomes]
rs36149160	0.82[AMR][1000 genomes]
rs36188950	0.81[EUR][1000 genomes]
rs4340246	0.84[EUR][1000 genomes]
rs4340247	0.86[EUR][1000 genomes]
rs4465519	0.85[EUR][1000 genomes]
rs55788205	0.82[AMR][1000 genomes]
rs55837858	0.82[AMR][1000 genomes]
rs57658601	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61977785	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7150603	0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs8012083	0.88[ASN][1000 genomes]
rs8012472	0.88[ASN][1000 genomes]
rs8012607	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56267200-56270600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:56267200-56271000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:56268600-56271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:56268800-56270800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:56269200-56272600	Enhancers	Small Intestine	intestine
7	chr14:56269200-56275200	Enhancers	Fetal Intestine Small	intestine
8	chr14:56269400-56270800	Enhancers	HMEC	breast
9	chr14:56269400-56271000	Enhancers	NHEK	skin
10	chr14:56269600-56270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:56269600-56270800	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:56269600-56270800	Enhancers	Fetal Intestine Large	intestine
13	chr14:56269600-56270800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:56269600-56270800	Enhancers	HepG2	liver
15	chr14:56269600-56271200	Enhancers	HUVEC	blood vessel
16	chr14:56269600-56275200	Enhancers	Pancreas	Pancrea
17	chr14:56269800-56270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:56270000-56270600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:56270000-56271200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:56270000-56271200	Flanking Active TSS	Stomach Mucosa	stomach
21	chr14:56270000-56273800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:56270200-56270800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:56270200-56270800	Enhancers	Dnd41	blood
24	chr14:56270200-56271000	Flanking Active TSS	Hela-S3	cervix
25	chr14:56270200-56271200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:56270200-56273400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:56270200-56273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:56270400-56270800	Enhancers	Esophagus	oesophagus
29	chr14:56270400-56270800	Enhancers	HSMMtube	muscle
30	chr14:56270400-56271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:56270400-56271000	Enhancers	A549	lung
32	chr14:56270400-56271200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:56270400-56273600	Weak transcription	K562	blood

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