Variant report

Variant	rs4981812
Chromosome Location	chr14:31444086-31444087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31442796..31445236-chr14:31495645..31497455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10135412	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138011	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10138452	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10140238	0.94[ASN][1000 genomes]
rs10145545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147690	0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10151219	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033559	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483357	0.84[CHB][hapmap]
rs10872848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11621991	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12019004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434740	0.81[EUR][1000 genomes]
rs12436401	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884687	0.99[ASN][1000 genomes]
rs17097477	0.82[EUR][1000 genomes]
rs17448194	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179698	0.87[ASN][1000 genomes]
rs179699	0.87[ASN][1000 genomes]
rs179701	0.87[ASN][1000 genomes]
rs179702	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179704	0.87[ASN][1000 genomes]
rs179705	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179706	0.88[ASN][1000 genomes]
rs179707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs179709	0.89[ASN][1000 genomes]
rs179710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179711	0.80[ASN][1000 genomes]
rs179712	0.89[ASN][1000 genomes]
rs179714	0.88[ASN][1000 genomes]
rs179717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs179718	0.88[ASN][1000 genomes]
rs179720	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179721	0.87[ASN][1000 genomes]
rs179722	0.86[ASN][1000 genomes]
rs179723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs179725	0.85[ASN][1000 genomes]
rs179726	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179731	0.85[ASN][1000 genomes]
rs179733	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs179736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1884057	0.99[ASN][1000 genomes]
rs2024662	0.90[ASN][1000 genomes]
rs2144040	0.99[ASN][1000 genomes]
rs2179934	0.99[ASN][1000 genomes]
rs2273171	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2378813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28535014	0.99[ASN][1000 genomes]
rs28648046	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898581	0.99[ASN][1000 genomes]
rs4340230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4981811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6571369	0.84[CHB][hapmap]
rs6571380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs66463317	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67209135	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67648672	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7140306	0.81[ASN][1000 genomes]
rs7140667	0.87[ASN][1000 genomes]
rs7143488	0.86[ASN][1000 genomes]
rs7149411	0.84[ASN][1000 genomes]
rs7150581	0.96[ASN][1000 genomes]
rs7150642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7154042	0.99[ASN][1000 genomes]
rs7155894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72668364	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72668370	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7350754	0.94[ASN][1000 genomes]
rs766146	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8018402	0.96[ASN][1000 genomes]
rs9322865	0.96[CHB][hapmap]
rs9322866	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs9322869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31436400-31457200	Weak transcription	HSMM	muscle
9	chr14:31436400-31457800	Weak transcription	NHEK	skin
10	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:31439000-31444400	Enhancers	HepG2	liver
13	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
14	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31440400-31444200	Weak transcription	Psoas Muscle	Psoas
17	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
19	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:31441200-31457400	Weak transcription	NH-A	brain
22	chr14:31441600-31445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:31441600-31449800	Weak transcription	K562	blood
24	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:31441800-31444600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:31442000-31444200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:31442000-31446400	Enhancers	Liver	Liver
28	chr14:31442200-31445000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:31442200-31445600	Enhancers	Brain Hippocampus Middle	brain
30	chr14:31442200-31445800	Enhancers	Adipose Nuclei	Adipose
31	chr14:31442400-31449800	Weak transcription	Fetal Intestine Small	intestine
32	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
33	chr14:31442400-31494400	Weak transcription	Gastric	stomach
34	chr14:31442600-31457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:31442800-31444200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:31442800-31444200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:31442800-31444200	Enhancers	Fetal Lung	lung
38	chr14:31442800-31444200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:31442800-31444400	Enhancers	Hela-S3	cervix
40	chr14:31443000-31444200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:31443000-31444200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:31443000-31444200	Enhancers	HUVEC	blood vessel
43	chr14:31443000-31444400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:31443200-31444200	Enhancers	NHDF-Ad	bronchial
46	chr14:31443200-31444200	Enhancers	Osteobl	bone
47	chr14:31443200-31450600	Weak transcription	Primary T cells from cord blood	blood
48	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:31443400-31447400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:31443400-31451400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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