Variant report

Variant	rs4972367
Chromosome Location	chr2:149237399-149237400
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	chr2:149236787..149238551-chr2:149238732..149240365,2	MCF-7	breast:
2	chr2:149235404..149238151-chr2:149241139..149243574,2	K562	blood:

Variant related genes	Relation type
ENSG00000204406	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13008472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13034925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17357225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17357457	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4972280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6751753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs765056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs940460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149215000-149246800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:149220200-149247000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:149224400-149247000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:149224600-149247000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:149225000-149249200	Weak transcription	NHLF	lung
6	chr2:149226800-149250200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:149227000-149247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:149227200-149240800	Weak transcription	Ovary	ovary
9	chr2:149227200-149259200	Weak transcription	Right Ventricle	heart
10	chr2:149227400-149245600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:149227400-149247000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:149227400-149250800	Weak transcription	Primary B cells from cord blood	blood
13	chr2:149227400-149251400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:149227600-149240800	Weak transcription	Lung	lung
15	chr2:149227600-149241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:149227600-149246600	Weak transcription	Fetal Brain Male	brain
17	chr2:149227600-149246800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:149227600-149247000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:149227600-149247000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:149227600-149247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:149227600-149247000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:149227600-149247000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:149227600-149247000	Weak transcription	Fetal Intestine Large	intestine
24	chr2:149227600-149247000	Weak transcription	Fetal Kidney	kidney
25	chr2:149227600-149247000	Weak transcription	Spleen	Spleen
26	chr2:149227600-149259200	Weak transcription	Gastric	stomach
27	chr2:149227800-149243400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:149227800-149246800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:149227800-149247000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:149227800-149247000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:149227800-149247000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:149227800-149247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:149227800-149247000	Weak transcription	Fetal Lung	lung
34	chr2:149227800-149247000	Weak transcription	Fetal Thymus	thymus
35	chr2:149227800-149251000	Weak transcription	GM12878-XiMat	blood
36	chr2:149227800-149259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:149228000-149240600	Weak transcription	Fetal Brain Female	brain
38	chr2:149228000-149240600	Weak transcription	Left Ventricle	heart
39	chr2:149228000-149240800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:149228000-149240800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:149228000-149240800	Weak transcription	Fetal Stomach	stomach
42	chr2:149228000-149246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:149228000-149246800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:149228000-149247000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:149228000-149247000	Weak transcription	Primary T cells from cord blood	blood
46	chr2:149228000-149247000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:149228000-149247000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:149228000-149247000	Weak transcription	Aorta	Aorta
49	chr2:149228000-149247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:149228000-149247000	Weak transcription	Fetal Intestine Small	intestine

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