Variant report

Variant	rs7948641
Chromosome Location	chr11:75536640-75536641
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	chr11:75526011..75530054-chr11:75532879..75536884,5	K562	blood:
2	chr11:75529982..75533584-chr11:75534201..75537646,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	Chromatin interaction
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12279369	1.00[EUR][1000 genomes]
rs12283986	1.00[EUR][1000 genomes]
rs17134361	1.00[EUR][1000 genomes]
rs17134375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2371370	1.00[EUR][1000 genomes]
rs2371373	1.00[EUR][1000 genomes]
rs34113941	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3862806	1.00[EUR][1000 genomes]
rs55740367	1.00[EUR][1000 genomes]
rs56216135	1.00[EUR][1000 genomes]
rs56230849	1.00[EUR][1000 genomes]
rs56280826	1.00[EUR][1000 genomes]
rs57081953	1.00[EUR][1000 genomes]
rs58443332	1.00[EUR][1000 genomes]
rs58509556	1.00[EUR][1000 genomes]
rs60606258	1.00[EUR][1000 genomes]
rs7102067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102544	1.00[EUR][1000 genomes]
rs7105260	1.00[EUR][1000 genomes]
rs7106322	1.00[EUR][1000 genomes]
rs7115978	1.00[EUR][1000 genomes]
rs7118055	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122276	1.00[EUR][1000 genomes]
rs7122386	1.00[EUR][1000 genomes]
rs7122695	1.00[EUR][1000 genomes]
rs7125495	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7131141	1.00[EUR][1000 genomes]
rs73491729	1.00[EUR][1000 genomes]
rs73491733	1.00[EUR][1000 genomes]
rs73491734	1.00[EUR][1000 genomes]
rs73491737	1.00[EUR][1000 genomes]
rs73491741	1.00[EUR][1000 genomes]
rs73504544	1.00[EUR][1000 genomes]
rs7928366	1.00[EUR][1000 genomes]
rs7933028	1.00[EUR][1000 genomes]
rs7934683	1.00[EUR][1000 genomes]
rs7934862	1.00[EUR][1000 genomes]
rs7934895	1.00[EUR][1000 genomes]
rs7937098	1.00[EUR][1000 genomes]
rs7939174	1.00[EUR][1000 genomes]
rs7948380	1.00[EUR][1000 genomes]
rs7948526	1.00[EUR][1000 genomes]
rs7949863	1.00[EUR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528000-75537800	Weak transcription	Aorta	Aorta
2	chr11:75528000-75538400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:75528200-75541000	Weak transcription	Esophagus	oesophagus
4	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:75528400-75537400	Weak transcription	HSMMtube	muscle
7	chr11:75528400-75541600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:75528400-75561600	Weak transcription	HSMM	muscle
11	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:75528600-75537400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:75528600-75537400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:75528600-75537400	Weak transcription	NHLF	lung
15	chr11:75528600-75537600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:75528600-75537600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:75528600-75537600	Weak transcription	Brain Substantia Nigra	brain
18	chr11:75528600-75537600	Weak transcription	Fetal Kidney	kidney
19	chr11:75528600-75537800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:75528600-75538000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:75528600-75538000	Weak transcription	Psoas Muscle	Psoas
22	chr11:75528600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
25	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
26	chr11:75528600-75563600	Weak transcription	Dnd41	blood
27	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:75529000-75537400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:75529200-75537600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
32	chr11:75531800-75539400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:75532000-75537400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:75532200-75538600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:75532200-75551000	Weak transcription	NHEK	skin
36	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:75533200-75539400	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:75533600-75540600	Weak transcription	Ovary	ovary
39	chr11:75533600-75549000	Weak transcription	K562	blood
40	chr11:75534000-75537400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:75534000-75537600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:75534000-75538600	Weak transcription	Colonic Mucosa	Colon
43	chr11:75534200-75537800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:75534200-75539200	Enhancers	Colon Smooth Muscle	Colon
45	chr11:75534600-75537000	Enhancers	Liver	Liver
46	chr11:75534800-75536800	Weak transcription	Left Ventricle	heart
47	chr11:75534800-75537400	Weak transcription	Right Atrium	heart
48	chr11:75534800-75537800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:75534800-75537800	Weak transcription	Fetal Intestine Small	intestine
50	chr11:75534800-75542600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links