Variant report

Variant	rs386090
Chromosome Location	chr13:111152121-111152122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111146550..111148284-chr13:111150740..111153734,2	K562	blood:
2	chr13:111137982..111139929-chr13:111150615..111152724,2	K562	blood:
3	chr13:111147183..111148852-chr13:111151910..111153653,2	MCF-7	breast:
4	chr13:111145123..111148050-chr13:111150419..111153433,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11839455	1.00[CEU][hapmap];0.90[GIH][hapmap];0.89[EUR][1000 genomes]
rs11839503	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35232900	1.00[EUR][1000 genomes]
rs35656731	1.00[EUR][1000 genomes]
rs421177	0.80[CEU][hapmap]
rs449554	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58143650	1.00[EUR][1000 genomes]
rs7139823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8002268	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs912946	1.00[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes]
rs9559823	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
6	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
9	esv2763053	chr13:111150915-111152191	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
2	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
4	chr13:111109600-111158800	Strong transcription	Ovary	ovary
5	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
9	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
11	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
12	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
14	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
15	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
17	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
19	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:111138800-111155400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
22	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:111139800-111155400	Strong transcription	Right Ventricle	heart
25	chr13:111139800-111155600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:111140800-111153000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:111141000-111152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:111141000-111159000	Strong transcription	NHLF	lung
32	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:111141800-111155400	Strong transcription	Spleen	Spleen
34	chr13:111143200-111156400	Weak transcription	Stomach Mucosa	stomach
35	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:111145200-111155800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas
39	chr13:111146800-111156200	Strong transcription	HSMM	muscle
40	chr13:111147000-111158800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr13:111147000-111159400	Strong transcription	Fetal Lung	lung
42	chr13:111147200-111159000	Strong transcription	Aorta	Aorta
43	chr13:111147800-111152200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:111147800-111156600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:111148000-111156200	Strong transcription	HSMMtube	muscle
46	chr13:111148400-111153000	Weak transcription	Fetal Brain Female	brain
47	chr13:111148600-111155200	Strong transcription	Fetal Kidney	kidney
48	chr13:111149200-111152600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:111149400-111152800	Weak transcription	Brain Hippocampus Middle	brain
50	chr13:111149600-111153800	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links