Variant report

Variant	rs1183781
Chromosome Location	chr12:120679926-120679927
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
5	chr12:120678787..120681833-chr12:120700591..120705170,4	K562	blood:
6	chr12:120636299..120641088-chr12:120677088..120682968,7	K562	blood:

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10849739	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065035	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs11065036	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs11065061	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11065064	0.96[EUR][1000 genomes]
rs1151824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1151825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1151827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1151830	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1151832	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151837	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1182860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11831552	0.98[EUR][1000 genomes]
rs12164847	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12305146	0.95[EUR][1000 genomes]
rs12308431	0.85[EUR][1000 genomes]
rs12310433	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs12312562	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs12321884	0.91[ASN][1000 genomes]
rs12581983	0.86[ASN][1000 genomes]
rs1634814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1634815	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2006194	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2074540	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2238155	0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2238156	0.98[EUR][1000 genomes]
rs2238157	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2239208	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2240312	0.89[JPT][hapmap]
rs2240317	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2240318	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2240321	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2240322	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2240323	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2240325	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2269941	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2269944	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2269945	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2283362	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2283364	0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2283365	0.99[EUR][1000 genomes]
rs2286049	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2286050	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2286051	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2422	0.84[JPT][hapmap]
rs2524391	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742039	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs3759397	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs3888586	0.89[JPT][hapmap]
rs3888587	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3888588	0.99[EUR][1000 genomes]
rs3890165	0.98[EUR][1000 genomes]
rs3956833	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs4767886	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs61198412	0.98[EUR][1000 genomes]
rs7134706	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7296380	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7300273	0.98[EUR][1000 genomes]
rs739809	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7953949	0.98[EUR][1000 genomes]
rs7966099	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
4	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:120671800-120682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:120672200-120680400	Enhancers	Fetal Thymus	thymus
8	chr12:120673800-120682800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:120674200-120682800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
11	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr12:120675200-120680200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:120675200-120680400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120675400-120682000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:120675800-120681000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:120675800-120682000	Genic enhancers	Fetal Muscle Leg	muscle
17	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
18	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:120676400-120682600	Weak transcription	Ovary	ovary
20	chr12:120676400-120685000	Genic enhancers	NHEK	skin
21	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
23	chr12:120676600-120682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:120676800-120680800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:120676800-120682000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:120676800-120682600	Weak transcription	NH-A	brain
27	chr12:120676800-120682800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
29	chr12:120677000-120681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:120677000-120681800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:120677000-120682000	Genic enhancers	HSMM	muscle
32	chr12:120677000-120683400	Enhancers	HSMMtube	muscle
33	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:120677400-120680000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr12:120677600-120680400	Enhancers	Brain Hippocampus Middle	brain
36	chr12:120677600-120682000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:120677800-120680000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:120677800-120680000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:120677800-120680000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:120677800-120680200	Genic enhancers	Fetal Intestine Small	intestine
41	chr12:120677800-120680400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:120677800-120681600	Enhancers	HepG2	liver
43	chr12:120677800-120681800	Enhancers	Fetal Heart	heart
44	chr12:120677800-120682000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:120677800-120682000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:120677800-120682000	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr12:120677800-120682000	Enhancers	Right Atrium	heart
48	chr12:120678000-120680000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:120678000-120680000	Enhancers	Brain Anterior Caudate	brain
50	chr12:120678000-120680000	Enhancers	Colonic Mucosa	Colon

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