Variant report

Variant	rs11847490
Chromosome Location	chr14:35310577-35310578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35310239..35314325-chr14:35340796..35344986,8	MCF-7	breast:
2	chr14:35310484..35315541-chr14:35341782..35344711,6	MCF-7	breast:
3	chr14:35308103..35311093-chr14:35312889..35314480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11847482	0.95[AFR][1000 genomes]
rs61503336	0.89[AFR][1000 genomes]
rs61612362	0.87[AFR][1000 genomes]
rs7143573	0.83[YRI][hapmap]
rs7144947	1.00[YRI][hapmap]
rs7151346	0.86[AFR][1000 genomes]
rs7156526	0.92[YRI][hapmap]
rs7160935	0.92[YRI][hapmap]
rs8006996	0.92[YRI][hapmap]
rs8007282	0.95[AFR][1000 genomes]
rs8020967	0.92[YRI][hapmap];0.97[AFR][1000 genomes]
rs8021114	0.97[AFR][1000 genomes]
rs8021608	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
3	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
5	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
7	chr14:35274400-35312400	Weak transcription	Gastric	stomach
8	chr14:35274800-35312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
10	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
12	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:35277200-35322000	Weak transcription	Fetal Intestine Large	intestine
14	chr14:35282600-35323400	Weak transcription	Lung	lung
15	chr14:35290600-35311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:35292400-35312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:35292600-35312000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:35292600-35312400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:35292600-35322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:35292600-35322800	Weak transcription	Thymus	Thymus
21	chr14:35292800-35320200	Weak transcription	Fetal Stomach	stomach
22	chr14:35293800-35311800	Weak transcription	NH-A	brain
23	chr14:35294400-35311400	Weak transcription	HMEC	breast
24	chr14:35294400-35311800	Weak transcription	NHLF	lung
25	chr14:35294400-35312200	Weak transcription	Hela-S3	cervix
26	chr14:35295000-35310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:35295000-35322800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:35295200-35327000	Weak transcription	Spleen	Spleen
29	chr14:35296200-35321600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:35296400-35310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:35296400-35311800	Weak transcription	HSMM	muscle
32	chr14:35296400-35312000	Weak transcription	K562	blood
33	chr14:35296400-35312400	Weak transcription	Fetal Thymus	thymus
34	chr14:35296600-35311200	Weak transcription	NHEK	skin
35	chr14:35296600-35315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:35298200-35311200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:35298200-35312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:35300600-35311400	Weak transcription	Dnd41	blood
39	chr14:35301200-35312000	Weak transcription	Psoas Muscle	Psoas
40	chr14:35301200-35312400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:35303600-35311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:35303600-35311400	Weak transcription	Adipose Nuclei	Adipose
43	chr14:35303600-35311800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:35303600-35311800	Weak transcription	NHDF-Ad	bronchial
45	chr14:35303800-35311400	Weak transcription	GM12878-XiMat	blood
46	chr14:35303800-35311800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:35303800-35312400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:35303800-35312400	Weak transcription	Small Intestine	intestine
49	chr14:35303800-35321600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:35304000-35311800	Weak transcription	Primary hematopoietic stem cells	blood

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