Variant report

Variant	rs12538386
Chromosome Location	chr7:140219427-140219428
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	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
2	chr7:140175661..140178823-chr7:140215593..140219447,3	K562	blood:

Variant related genes	Relation type
ENSG00000133606	Chromatin interaction

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

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

rs_ID	r²[population]
rs6464818	0.88[CEU][hapmap]
rs6464833	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs6943477	0.82[EUR][1000 genomes]
rs6948434	0.86[EUR][1000 genomes]
rs6948774	0.88[EUR][1000 genomes]
rs6952208	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs6952414	0.90[EUR][1000 genomes]
rs6952999	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs6975258	0.86[EUR][1000 genomes]
rs6976066	0.90[EUR][1000 genomes]
rs6980049	0.86[EUR][1000 genomes]

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	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2761112	chr7:140191538-140234571	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv464735	chr7:140195463-140233585	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv608501	chr7:140195463-140233585	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1033685	chr7:140197079-140224303	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1015856	chr7:140197079-140235677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1018535	chr7:140198540-140224303	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1019815	chr7:140206590-140235677	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv971147	chr7:140212384-140219526	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
2	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
4	chr7:140210800-140220000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:140211600-140225600	Weak transcription	NH-A	brain
6	chr7:140212600-140220800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:140212600-140221200	Weak transcription	Left Ventricle	heart
8	chr7:140212600-140225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:140212600-140225400	Weak transcription	Esophagus	oesophagus
10	chr7:140212600-140225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:140212600-140225800	Weak transcription	Right Atrium	heart
12	chr7:140212600-140227000	Weak transcription	Lung	lung
13	chr7:140212800-140224000	Weak transcription	Liver	Liver
14	chr7:140214600-140225400	Weak transcription	Gastric	stomach
15	chr7:140216600-140227600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:140216800-140229000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:140216800-140230600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:140217200-140223400	Strong transcription	Fetal Intestine Small	intestine
19	chr7:140217200-140224000	Strong transcription	Fetal Brain Female	brain
20	chr7:140217400-140222000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:140217800-140219600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:140217800-140220400	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr7:140218000-140219600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:140218000-140219600	Enhancers	Adipose Nuclei	Adipose
25	chr7:140218000-140219600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:140218000-140219600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:140218000-140219600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:140218000-140219800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr7:140218000-140220000	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:140218000-140223400	Weak transcription	Fetal Intestine Large	intestine
31	chr7:140218200-140219600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:140218200-140221200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:140218200-140221600	Weak transcription	Right Ventricle	heart
34	chr7:140218200-140223800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:140218200-140224800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:140218200-140225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:140218200-140225600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:140218200-140225800	Weak transcription	Pancreas	Pancrea
39	chr7:140218200-140241400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:140218400-140219600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr7:140218400-140220000	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:140218400-140221400	Weak transcription	Ovary	ovary
43	chr7:140218400-140225000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:140218400-140225600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:140218600-140222200	Strong transcription	Brain Germinal Matrix	brain
46	chr7:140218800-140219600	Strong transcription	NHLF	lung
47	chr7:140218800-140220600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr7:140219000-140219600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:140219000-140219800	Strong transcription	Brain Substantia Nigra	brain
50	chr7:140219000-140220400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links