Variant report

Variant	rs12334675
Chromosome Location	chr8:95390251-95390252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10089098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093542	1.00[CEU][hapmap]
rs10094155	1.00[CEU][hapmap]
rs10094296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095883	1.00[CEU][hapmap]
rs10097080	1.00[AMR][1000 genomes]
rs10098298	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10098682	1.00[CEU][hapmap]
rs10099076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104637	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104756	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105476	1.00[CEU][hapmap]
rs10107320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10110995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111251	1.00[CEU][hapmap]
rs10111789	0.81[AMR][1000 genomes]
rs10111845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1055798	1.00[CEU][hapmap]
rs12334369	1.00[CEU][hapmap]
rs12334990	1.00[CEU][hapmap]
rs13439301	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2119461	1.00[CEU][hapmap]
rs28397775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28425652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28435991	1.00[AMR][1000 genomes]
rs28465569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28605692	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608052	1.00[AFR][1000 genomes]
rs28651529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28897138	0.81[AMR][1000 genomes]
rs3136421	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7823715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8117	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95372800-95391200	Weak transcription	HepG2	liver
4	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
5	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
14	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
23	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
24	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
25	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
26	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
27	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
29	chr8:95381400-95391400	Weak transcription	Ovary	ovary
30	chr8:95382400-95390800	Weak transcription	Liver	Liver
31	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:95382400-95414800	Weak transcription	Gastric	stomach
33	chr8:95382800-95390400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:95383800-95390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:95384200-95390400	Weak transcription	K562	blood
39	chr8:95384200-95390600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:95385800-95390400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:95385800-95390400	Weak transcription	Primary T cells from cord blood	blood
43	chr8:95385800-95390400	Weak transcription	Hela-S3	cervix
44	chr8:95385800-95390800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:95385800-95390800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:95385800-95391000	Weak transcription	HSMM	muscle
47	chr8:95385800-95403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:95386000-95390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:95386000-95390400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:95386000-95390400	Weak transcription	NH-A	brain

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