Variant report

Variant	rs12638831
Chromosome Location	chr3:158521218-158521219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158519080..158523533-chr3:158523571..158529220,8	MCF-7	breast:
2	chr3:158520933..158523122-chr3:158539093..158541854,2	K562	blood:
3	chr3:158519555..158521596-chr3:158521665..158523312,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118855	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10936160	0.98[ASN][1000 genomes]
rs12493280	0.98[ASN][1000 genomes]
rs1381463	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244996	0.88[ASN][1000 genomes]
rs2364921	0.85[ASN][1000 genomes]
rs2713736	0.88[ASN][1000 genomes]
rs6802844	0.85[ASN][1000 genomes]
rs7429205	0.99[ASN][1000 genomes]
rs9861042	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv1014511	chr3:158516495-158715240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158518600-158521400	Active TSS	Brain Cingulate Gyrus	brain
2	chr3:158518800-158521400	Active TSS	Brain Hippocampus Middle	brain
3	chr3:158518800-158522000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:158519000-158521400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:158519200-158521400	Active TSS	Rectal Smooth Muscle	rectum
6	chr3:158519200-158521600	Active TSS	Right Atrium	heart
7	chr3:158520200-158521400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:158520200-158521400	Flanking Active TSS	Osteobl	bone
9	chr3:158520400-158521400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr3:158520400-158522000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:158520400-158527400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:158520400-158552400	Weak transcription	Stomach Mucosa	stomach
13	chr3:158520600-158521400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:158520600-158521400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:158520600-158521400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:158520600-158521400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:158520600-158521400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:158520600-158521400	Enhancers	Fetal Heart	heart
19	chr3:158520600-158521600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:158520600-158521600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:158520600-158521600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:158520600-158521600	Active TSS	Placenta	Placenta
23	chr3:158520600-158521800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:158520600-158521800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:158520600-158522600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:158520600-158522800	Enhancers	HUVEC	blood vessel
27	chr3:158520600-158524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:158520600-158525600	Weak transcription	Fetal Kidney	kidney
29	chr3:158520600-158525600	Weak transcription	Gastric	stomach
30	chr3:158520600-158525600	Weak transcription	Left Ventricle	heart
31	chr3:158520600-158525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:158520600-158525600	Weak transcription	Spleen	Spleen
33	chr3:158520600-158525800	Weak transcription	Pancreas	Pancrea
34	chr3:158520600-158526200	Weak transcription	Esophagus	oesophagus
35	chr3:158520600-158526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:158520600-158527000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:158520600-158543400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:158520800-158521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:158520800-158521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:158520800-158521400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr3:158520800-158521400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:158520800-158521400	Enhancers	Small Intestine	intestine
43	chr3:158520800-158521400	Enhancers	A549	lung
44	chr3:158520800-158521400	Enhancers	HSMM	muscle
45	chr3:158520800-158521400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr3:158520800-158521600	Enhancers	Primary B cells from peripheral blood	blood
47	chr3:158520800-158521600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:158520800-158521600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:158520800-158522000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr3:158520800-158522200	Enhancers	Primary T helper cells PMA-I stimulated	--

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