Variant report

Variant	rs11940005
Chromosome Location	chr4:110368377-110368378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110353843..110356586-chr4:110367981..110370945,3	MCF-7	breast:
2	chr4:110353726..110356312-chr4:110368200..110370267,2	K562	blood:

Variant related genes	Relation type
ENSG00000247950	Chromatin interaction
ENSG00000138802	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11932581	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932667	1.00[EUR][1000 genomes]
rs11932771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941754	1.00[EUR][1000 genomes]
rs11945014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11945496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040297	1.00[EUR][1000 genomes]
rs17040364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040369	1.00[EUR][1000 genomes]
rs17040375	1.00[EUR][1000 genomes]
rs17040384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528383	1.00[EUR][1000 genomes]
rs28642881	1.00[EUR][1000 genomes]
rs34727311	1.00[EUR][1000 genomes]
rs55762783	1.00[EUR][1000 genomes]
rs61006726	1.00[EUR][1000 genomes]
rs61459557	1.00[EUR][1000 genomes]
rs61488031	1.00[EUR][1000 genomes]
rs72892728	1.00[EUR][1000 genomes]
rs72892735	1.00[EUR][1000 genomes]
rs72892737	1.00[EUR][1000 genomes]
rs73838561	1.00[EUR][1000 genomes]
rs73838812	1.00[EUR][1000 genomes]
rs73838813	1.00[EUR][1000 genomes]
rs73838815	1.00[EUR][1000 genomes]
rs73838816	1.00[EUR][1000 genomes]
rs73838817	1.00[EUR][1000 genomes]
rs73838818	1.00[EUR][1000 genomes]
rs7678204	1.00[EUR][1000 genomes]
rs7695097	1.00[EUR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110357800-110370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:110358000-110370600	Weak transcription	Fetal Brain Female	brain
3	chr4:110358000-110372000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:110358000-110384000	Weak transcription	Fetal Brain Male	brain
5	chr4:110358000-110384200	Weak transcription	Colonic Mucosa	Colon
6	chr4:110358600-110378600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:110360400-110384200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:110363000-110384200	Weak transcription	Esophagus	oesophagus
9	chr4:110363200-110370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:110363600-110370600	Weak transcription	Spleen	Spleen
11	chr4:110363600-110371000	Weak transcription	Stomach Mucosa	stomach
12	chr4:110363600-110372000	Weak transcription	K562	blood
13	chr4:110363600-110383600	Weak transcription	Pancreas	Pancrea
14	chr4:110363600-110383600	Weak transcription	NHDF-Ad	bronchial
15	chr4:110363600-110384200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:110363600-110384200	Weak transcription	Hela-S3	cervix
17	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:110363800-110370800	Weak transcription	HSMMtube	muscle
19	chr4:110364600-110370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:110364600-110384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:110365000-110372000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:110365000-110383400	Weak transcription	Fetal Heart	heart
23	chr4:110365000-110384000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:110365200-110370400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:110365200-110371000	Weak transcription	NH-A	brain
26	chr4:110365200-110384200	Weak transcription	Aorta	Aorta
27	chr4:110365400-110370600	Weak transcription	Lung	lung
28	chr4:110365800-110368400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:110365800-110370800	Weak transcription	Brain Anterior Caudate	brain
30	chr4:110366000-110368800	Strong transcription	Fetal Thymus	thymus
31	chr4:110366000-110391400	Weak transcription	Small Intestine	intestine
32	chr4:110366200-110369400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:110366800-110368800	Strong transcription	Liver	Liver
34	chr4:110367000-110368400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:110367200-110369400	Strong transcription	Fetal Lung	lung
36	chr4:110367200-110373600	Strong transcription	NHEK	skin
37	chr4:110367200-110373800	Strong transcription	HSMM	muscle
38	chr4:110367400-110383600	Weak transcription	HUVEC	blood vessel
39	chr4:110367600-110368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:110367600-110369000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr4:110367600-110369000	Weak transcription	Left Ventricle	heart
42	chr4:110367600-110369200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr4:110367600-110369600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr4:110367600-110369600	Weak transcription	Fetal Stomach	stomach
45	chr4:110367600-110370000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:110367600-110370200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:110367600-110370400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:110367600-110370400	Weak transcription	Fetal Intestine Small	intestine
49	chr4:110367600-110370400	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:110367600-110370600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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