Variant report

Variant	rs4964831
Chromosome Location	chr12:105109975-105109976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10861272	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[ASN][1000 genomes]
rs2029737	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964832	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297232	0.82[ASN][1000 genomes]
rs7297460	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv560051	chr12:105092213-105110554	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:105094200-105113600	Weak transcription	GM12878-XiMat	blood
5	chr12:105098400-105115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105098400-105116200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:105103000-105114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:105103600-105112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105104200-105113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:105104800-105116200	Weak transcription	A549	lung
11	chr12:105105200-105112000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:105105200-105113800	Weak transcription	HSMM	muscle
13	chr12:105105800-105112400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:105105800-105114000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:105106000-105112200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:105106200-105112000	Weak transcription	HSMMtube	muscle
17	chr12:105106200-105112200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:105106200-105112200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:105106200-105113200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:105106600-105112600	Weak transcription	Spleen	Spleen
21	chr12:105106600-105120600	Weak transcription	Pancreas	Pancrea
22	chr12:105106800-105112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:105107000-105112400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:105107000-105113400	Weak transcription	Primary B cells from cord blood	blood
25	chr12:105107000-105113800	Weak transcription	NHDF-Ad	bronchial
26	chr12:105107200-105112200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:105107200-105113000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:105107200-105114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:105107200-105115000	Weak transcription	K562	blood
30	chr12:105107400-105110000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:105107600-105110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:105107600-105110000	Enhancers	Fetal Stomach	stomach
33	chr12:105107600-105110000	Enhancers	Dnd41	blood
34	chr12:105107600-105114600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:105107800-105110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:105107800-105112000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:105107800-105112600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:105107800-105113200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:105108000-105110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:105108000-105111800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:105108000-105112000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:105108000-105113200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:105108000-105113400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:105108000-105114400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:105108200-105113400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:105108200-105113600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:105108400-105110000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:105108400-105113200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:105108600-105112800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:105108800-105110200	Enhancers	Primary B cells from peripheral blood	blood

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