Variant report

Variant	rs11627983
Chromosome Location	chr14:78377424-78377425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78375925..78378556-chr14:78379735..78381780,2	MCF-7	breast:
2	chr14:78374932..78377581-chr14:78382548..78385109,2	K562	blood:
3	chr14:78372404..78376597-chr14:78376677..78380306,3	K562	blood:
4	chr14:78367031..78369779-chr14:78376845..78379644,2	K562	blood:
5	chr14:78372395..78375467-chr14:78376028..78378909,3	K562	blood:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11621178	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs11625414	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs13379143	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1549118	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs17106425	1.00[AFR][1000 genomes]
rs17106489	1.00[AFR][1000 genomes]
rs17106503	1.00[AFR][1000 genomes]
rs17106514	1.00[AFR][1000 genomes]
rs17106518	1.00[AFR][1000 genomes]
rs17106524	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17106537	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17106561	1.00[AFR][1000 genomes]
rs17106585	1.00[AFR][1000 genomes]
rs17106593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886169	1.00[AFR][1000 genomes]
rs3783956	1.00[AFR][1000 genomes]
rs3783958	1.00[AFR][1000 genomes]
rs3783965	1.00[AFR][1000 genomes]
rs3783975	1.00[AFR][1000 genomes]
rs61975814	1.00[AFR][1000 genomes]
rs7140153	1.00[AFR][1000 genomes]
rs8008106	1.00[AFR][1000 genomes]
rs874024	1.00[AFR][1000 genomes]
rs874434	1.00[CEU][hapmap];1.00[AFR][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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv565233	chr14:78366967-78390880	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
2	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
5	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:78354800-78379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:78355000-78390800	Weak transcription	Spleen	Spleen
9	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
10	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
13	chr14:78356200-78390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
15	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
17	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:78359400-78384200	Weak transcription	Right Ventricle	heart
19	chr14:78359800-78390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:78360600-78378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:78360600-78379200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:78366000-78393000	Weak transcription	Aorta	Aorta
24	chr14:78366400-78379200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:78367400-78399200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:78369200-78392000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:78369400-78397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:78369600-78394000	Weak transcription	Liver	Liver
29	chr14:78369800-78384200	Weak transcription	Left Ventricle	heart
30	chr14:78370000-78380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:78370000-78397600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:78372400-78378800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:78372800-78399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:78373000-78377800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:78373000-78383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:78373000-78395200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:78373600-78380000	Enhancers	K562	blood
38	chr14:78374000-78378000	Strong transcription	Primary T cells from cord blood	blood
39	chr14:78374200-78390200	Weak transcription	Lung	lung
40	chr14:78374800-78391000	Weak transcription	Ovary	ovary
41	chr14:78375200-78391000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:78375200-78391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:78375400-78379200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:78375400-78400800	Weak transcription	NHEK	skin
45	chr14:78375600-78397800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:78375800-78377800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:78376000-78384400	Weak transcription	Right Atrium	heart
48	chr14:78376000-78392200	Weak transcription	Fetal Intestine Small	intestine
49	chr14:78376600-78386600	Weak transcription	Adipose Nuclei	Adipose
50	chr14:78376800-78384400	Weak transcription	Gastric	stomach

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