Variant report

Variant	rs11829895
Chromosome Location	chr12:117444785-117444786
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	chr12:117442427..117445023-chr12:117448481..117451118,2	K562	blood:
2	chr12:117438206..117440859-chr12:117443702..117446007,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11068269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11830219	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11832649	1.00[CEU][hapmap]
rs11835474	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320027	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947216	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947228	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947235	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35749640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36021180	1.00[EUR][1000 genomes]
rs3935958	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3956801	1.00[EUR][1000 genomes]
rs55693524	1.00[EUR][1000 genomes]
rs56103902	1.00[EUR][1000 genomes]
rs56721166	1.00[EUR][1000 genomes]
rs71469784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313865	1.00[EUR][1000 genomes]
rs7964659	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977227	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7980519	1.00[CEU][hapmap]
rs937567	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952934	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
5	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
7	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
8	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:117432000-117446200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:117432200-117446400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:117432600-117445800	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:117434200-117449800	Weak transcription	NHEK	skin
15	chr12:117435600-117449800	Weak transcription	Stomach Mucosa	stomach
16	chr12:117436800-117445600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:117437000-117447800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:117437600-117445800	Strong transcription	Primary B cells from cord blood	blood
20	chr12:117437600-117447000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:117437600-117448000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:117438000-117445600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:117438200-117444800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:117438200-117445600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:117438200-117445800	Strong transcription	Primary T cells from cord blood	blood
26	chr12:117438200-117447600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:117438600-117446200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:117438800-117445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:117439000-117445400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:117439200-117447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:117439200-117447200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:117439400-117445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:117440800-117446000	Strong transcription	HSMM	muscle
35	chr12:117441200-117449800	Weak transcription	Right Atrium	heart
36	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
37	chr12:117441800-117444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:117441800-117445800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:117441800-117445800	Strong transcription	Osteobl	bone
40	chr12:117441800-117446000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:117441800-117446600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:117442200-117445600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:117442200-117445800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:117442200-117446200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:117442200-117446600	Strong transcription	A549	lung
46	chr12:117442400-117445200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:117442400-117445400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:117442400-117445600	Strong transcription	HepG2	liver
49	chr12:117442400-117445800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:117442400-117445800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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