Variant report

Variant	rs8008529
Chromosome Location	chr14:37667669-37667670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37666297..37668856-chr14:38035873..38037389,2	MCF-7	breast:
2	chr14:37639617..37644848-chr14:37662875..37669924,15	K562	blood:
3	chr14:37639061..37645694-chr14:37661777..37669317,18	MCF-7	breast:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
5	chr14:37638241..37643981-chr14:37665773..37670423,8	MCF-7	breast:
6	chr14:37666447..37670165-chr14:37687994..37691286,5	MCF-7	breast:
7	chr14:37639697..37645467-chr14:37664720..37672395,14	K562	blood:

Variant related genes	Relation type
ENSG00000183032	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000259087	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10130026	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10134334	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140952	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483487	0.83[AMR][1000 genomes]
rs10483488	0.85[EUR][1000 genomes]
rs12100470	0.85[EUR][1000 genomes]
rs12101262	0.85[EUR][1000 genomes]
rs12588348	0.88[ASN][1000 genomes]
rs17106324	0.83[AMR][1000 genomes]
rs17106327	0.85[EUR][1000 genomes]
rs17106328	0.83[AMR][1000 genomes]
rs17106343	0.85[EUR][1000 genomes]
rs17106358	0.83[AMR][1000 genomes]
rs17106368	0.85[EUR][1000 genomes]
rs17106374	0.85[EUR][1000 genomes]
rs17106381	0.85[EUR][1000 genomes]
rs17106401	0.83[AMR][1000 genomes]
rs17106410	0.85[EUR][1000 genomes]
rs17106412	0.83[AMR][1000 genomes]
rs17106466	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106483	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106486	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955759	0.83[AMR][1000 genomes]
rs1956513	0.82[AFR][1000 genomes]
rs2180094	0.83[AMR][1000 genomes]
rs2415387	0.85[EUR][1000 genomes]
rs4900688	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4906577	0.83[AMR][1000 genomes]
rs56905022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56933807	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57235476	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57291540	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843803	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58262791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58473518	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59508104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59740956	0.87[AFR][1000 genomes]
rs60439332	0.83[AMR][1000 genomes]
rs60853724	0.83[AMR][1000 genomes]
rs60921013	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66496057	0.85[EUR][1000 genomes]
rs66862591	0.85[EUR][1000 genomes]
rs7140725	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143172	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143753	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145914	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149379	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151756	0.85[EUR][1000 genomes]
rs72669537	0.83[AMR][1000 genomes]
rs72669543	0.83[AMR][1000 genomes]
rs72669551	0.83[AMR][1000 genomes]
rs72669558	0.83[AMR][1000 genomes]
rs72669566	0.81[AMR][1000 genomes]
rs72669579	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72669586	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72669588	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72669600	0.92[EUR][1000 genomes]
rs72669602	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007988	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015791	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9672074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672077	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3367731	chr14:37642250-37668518	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37665400-37668600	Active TSS	K562	blood
2	chr14:37665800-37667800	Active TSS	Colon Smooth Muscle	Colon
3	chr14:37666000-37668200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:37666200-37667800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:37666200-37667800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:37666200-37667800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:37666200-37667800	Active TSS	Right Ventricle	heart
8	chr14:37666200-37668000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:37666200-37668000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:37666200-37668000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:37666200-37668000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:37666200-37668000	Active TSS	Aorta	Aorta
13	chr14:37666200-37668000	Active TSS	Fetal Kidney	kidney
14	chr14:37666200-37668000	Active TSS	NHDF-Ad	bronchial
15	chr14:37666200-37668200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:37666200-37668200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:37666200-37668200	Active TSS	Stomach Smooth Muscle	stomach
18	chr14:37666200-37668400	Active TSS	A549	lung
19	chr14:37666400-37667800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:37666400-37667800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:37666400-37667800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:37666400-37667800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr14:37666400-37667800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr14:37666400-37667800	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:37666400-37667800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr14:37666400-37667800	Active TSS	Osteobl	bone
27	chr14:37666400-37668000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:37666400-37668000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:37666400-37668000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:37666400-37668000	Active TSS	Brain Cingulate Gyrus	brain
31	chr14:37666400-37668000	Active TSS	Fetal Brain Female	brain
32	chr14:37666400-37668000	Active TSS	Fetal Intestine Large	intestine
33	chr14:37666400-37668000	Active TSS	Fetal Muscle Leg	muscle
34	chr14:37666400-37668000	Active TSS	Fetal Stomach	stomach
35	chr14:37666400-37668000	Active TSS	Right Atrium	heart
36	chr14:37666400-37668000	Active TSS	HSMMtube	muscle
37	chr14:37666400-37668200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:37666400-37668200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:37666400-37668200	Active TSS	Duodenum Mucosa	Duodenum
40	chr14:37666400-37668200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:37666400-37668400	Active TSS	HMEC	breast
42	chr14:37666600-37667800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:37666600-37667800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:37666600-37667800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:37666600-37667800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr14:37666600-37667800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:37666600-37667800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:37666600-37667800	Active TSS	Brain Anterior Caudate	brain
49	chr14:37666600-37667800	Active TSS	Brain Germinal Matrix	brain
50	chr14:37666600-37667800	Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links