Variant report

Variant	rs6714147
Chromosome Location	chr2:178648842-178648843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10179500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs13396065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs13396537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs13421315	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1438040	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1438060	0.81[JPT][hapmap]
rs1438062	0.81[JPT][hapmap]
rs1530035	0.86[JPT][hapmap]
rs3754996	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3770044	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs3770045	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3770048	0.81[JPT][hapmap]
rs3821010	0.81[JPT][hapmap]
rs41440047	0.81[JPT][hapmap]
rs6433694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6433698	0.81[JPT][hapmap]
rs6706739	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6718657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6718860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6720891	0.81[JPT][hapmap]
rs6726253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs6737872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6743821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs6751656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6758543	0.81[JPT][hapmap]
rs7557283	0.80[JPT][hapmap]
rs7563242	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap]
rs7605091	0.86[CHB][hapmap]
rs934802	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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
3	nsv583690	chr2:178638381-178712283	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178647000-178649200	Enhancers	HMEC	breast
2	chr2:178647200-178650000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:178647400-178649000	Enhancers	NHEK	skin
4	chr2:178647400-178650200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178647600-178649000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:178647600-178649800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:178647600-178650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:178647600-178650000	Enhancers	HSMM	muscle
9	chr2:178647800-178649000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:178647800-178649800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:178647800-178650200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:178648000-178649000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:178648000-178650200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:178648200-178649000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:178648200-178650000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:178648200-178650000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:178648400-178649000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:178648400-178649600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:178648400-178649600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:178648400-178649800	Enhancers	Primary T cells from cord blood	blood
21	chr2:178648400-178650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:178648400-178650000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:178648400-178650200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:178648600-178649000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:178648600-178649000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:178648600-178649000	Enhancers	NHDF-Ad	bronchial
27	chr2:178648600-178649200	Enhancers	Colon Smooth Muscle	Colon
28	chr2:178648600-178649200	Enhancers	HSMMtube	muscle
29	chr2:178648600-178649200	Enhancers	NH-A	brain
30	chr2:178648600-178649400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:178648600-178649400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:178648600-178649400	Enhancers	Fetal Thymus	thymus
33	chr2:178648600-178649600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:178648600-178649600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:178648600-178649600	Flanking Active TSS	Dnd41	blood
36	chr2:178648600-178649800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:178648600-178649800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:178648600-178649800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:178648600-178649800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:178648600-178649800	Enhancers	Thymus	Thymus
41	chr2:178648600-178650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:178648600-178650000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:178648600-178650000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:178648600-178650000	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:178648800-178649000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:178648800-178649000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:178648800-178649000	Enhancers	Liver	Liver
48	chr2:178648800-178649000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:178648800-178649000	Enhancers	GM12878-XiMat	blood
50	chr2:178648800-178649000	Enhancers	Monocytes-CD14+_RO01746	blood

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