Variant report

Variant	rs12614977
Chromosome Location	chr2:149510282-149510283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:149509686-149510959	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149501330..149503754-chr2:149507415..149510339,2	K562	blood:
2	chr2:149508213..149510756-chr2:149510978..149513844,2	K562	blood:

Variant related genes	Relation type
EPC2	TF binding region
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12622667	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12623667	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs978509	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149477800-149511800	Weak transcription	Thymus	Thymus
2	chr2:149478400-149511400	Weak transcription	Fetal Thymus	thymus
3	chr2:149478600-149526800	Weak transcription	Lung	lung
4	chr2:149479800-149511600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:149480000-149513800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:149480000-149513800	Weak transcription	NH-A	brain
7	chr2:149480200-149511400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:149480400-149512200	Weak transcription	Fetal Lung	lung
9	chr2:149483400-149523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:149483800-149511600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:149485800-149511600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:149486200-149512000	Weak transcription	Fetal Stomach	stomach
13	chr2:149486200-149526800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:149493600-149512200	Weak transcription	HSMMtube	muscle
15	chr2:149495200-149542000	Weak transcription	Right Atrium	heart
16	chr2:149495400-149510600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:149495600-149511400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:149497000-149523800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:149497400-149513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:149497400-149520400	Weak transcription	GM12878-XiMat	blood
21	chr2:149498000-149513800	Weak transcription	K562	blood
22	chr2:149498000-149524000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:149499600-149525000	Weak transcription	Fetal Kidney	kidney
24	chr2:149499800-149512200	Weak transcription	Brain Anterior Caudate	brain
25	chr2:149499800-149513800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:149500000-149511800	Weak transcription	Adipose Nuclei	Adipose
27	chr2:149500200-149524200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:149500200-149541200	Weak transcription	HUVEC	blood vessel
29	chr2:149500400-149512000	Weak transcription	Psoas Muscle	Psoas
30	chr2:149500400-149513400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:149500400-149513600	Weak transcription	NHEK	skin
32	chr2:149500400-149513800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:149500400-149524200	Weak transcription	Left Ventricle	heart
34	chr2:149500400-149527200	Weak transcription	Ovary	ovary
35	chr2:149500400-149527600	Weak transcription	Esophagus	oesophagus
36	chr2:149501600-149511800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:149502200-149511600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:149502200-149520800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:149502200-149521800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:149503000-149521400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:149503200-149511400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:149503400-149514000	Weak transcription	NHDF-Ad	bronchial
43	chr2:149504000-149524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:149504400-149511200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:149504400-149511600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:149504400-149513800	Weak transcription	Osteobl	bone
47	chr2:149504400-149526800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:149504800-149524200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:149505200-149525200	Weak transcription	Small Intestine	intestine
50	chr2:149505600-149523200	Weak transcription	Fetal Intestine Large	intestine

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