Variant report

Variant	rs7130539
Chromosome Location	chr11:4118748-4118749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4118572..4121110-chr11:4127207..4129203,2	K562	blood:
2	chr11:3861866..3863441-chr11:4116962..4119741,2	MCF-7	breast:
3	chr11:4118205..4121110-chr11:4126914..4129955,3	K562	blood:
4	chr11:3705048..3707585-chr11:4118303..4120939,2	K562	blood:
5	chr11:4116211..4118977-chr11:4131945..4133652,2	K562	blood:
6	chr11:4117926..4120153-chr11:4124381..4126290,2	K562	blood:
7	chr11:4117924..4121571-chr11:4122860..4124784,4	K562	blood:
8	chr11:3839155..3841334-chr11:4117148..4119265,2	K562	blood:
9	chr11:4106632..4109495-chr11:4117299..4119032,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10498198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031003	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11031065	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11031082	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11031136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12271818	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273142	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273534	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273972	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12274313	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288914	0.87[EUR][1000 genomes]
rs12295358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268167	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55666376	0.93[ASN][1000 genomes]
rs74051925	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74054319	0.83[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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4116800-4120000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:4117000-4124600	Weak transcription	Aorta	Aorta
3	chr11:4117000-4124600	Weak transcription	Left Ventricle	heart
4	chr11:4117000-4137200	Weak transcription	Esophagus	oesophagus
5	chr11:4117000-4141000	Weak transcription	Ovary	ovary
6	chr11:4117200-4119000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:4117200-4119200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:4117200-4119200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:4117200-4120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:4117200-4126800	Weak transcription	Psoas Muscle	Psoas
11	chr11:4117200-4127400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
13	chr11:4117400-4119600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:4117400-4124200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:4117400-4124600	Weak transcription	Lung	lung
16	chr11:4117400-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:4117400-4125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
19	chr11:4117600-4118800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:4117600-4119000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:4117600-4119000	Enhancers	Thymus	Thymus
22	chr11:4117600-4119200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:4117600-4119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:4117600-4119200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:4117600-4119400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:4117600-4121400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:4117600-4121600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:4117600-4122400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:4117600-4123000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:4117600-4123000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:4117600-4123200	Weak transcription	Placenta	Placenta
32	chr11:4117600-4123400	Weak transcription	Adipose Nuclei	Adipose
33	chr11:4117600-4123800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:4117600-4124000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:4117600-4124000	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:4117600-4124200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:4117600-4124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:4117600-4124800	Weak transcription	Fetal Intestine Small	intestine
39	chr11:4117600-4125200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:4117600-4125800	Weak transcription	Liver	Liver
41	chr11:4117600-4126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:4117600-4126400	Weak transcription	Fetal Intestine Large	intestine
43	chr11:4117600-4126600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:4117600-4126600	Weak transcription	Spleen	Spleen
45	chr11:4117600-4127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:4117600-4127000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:4117600-4127200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:4117600-4127200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:4117600-4128600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:4117600-4129200	Weak transcription	Brain Cingulate Gyrus	brain

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