Variant report

Variant	rs12134934
Chromosome Location	chr1:186281400-186281401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:186281353-186281499	K562	blood:	n/a	n/a
2	POLR2A	chr1:186281236-186281638	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:186277800-186282438	K562	blood:	n/a	n/a
4	POLR2A	chr1:186281272-186281485	K562	blood:	n/a	n/a
5	POLR2A	chr1:186281350-186282269	A549	lung:	n/a	n/a
6	POLR2A	chr1:186281277-186282317	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:186281260-186282142	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186279942..186281845-chr1:186343325..186346234,2	K562	blood:

Variant related genes	Relation type
RNU6-1240P	TF binding region
ENSG00000047410	Chromatin interaction
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10798039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911846	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124995	1.00[EUR][1000 genomes]
rs12128607	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12139138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12139964	1.00[AMR][1000 genomes]
rs3108517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3115751	1.00[AMR][1000 genomes]
rs3115752	0.82[CEU][hapmap]
rs3115753	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3115760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3119332	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs3119333	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3119334	1.00[AMR][1000 genomes]
rs3124809	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3124810	1.00[AMR][1000 genomes]
rs3124812	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3124813	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs3124815	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs3131549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3131553	1.00[AMR][1000 genomes]
rs74134828	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7526540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186267200-186281600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:186269000-186281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186269400-186281400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:186269400-186281400	Weak transcription	Fetal Heart	heart
5	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:186273200-186283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:186273200-186284000	Weak transcription	Spleen	Spleen
8	chr1:186273200-186286200	Weak transcription	Pancreas	Pancrea
9	chr1:186273200-186290000	Weak transcription	Gastric	stomach
10	chr1:186275000-186281400	Weak transcription	NHEK	skin
11	chr1:186275000-186282800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:186275000-186284000	Weak transcription	Aorta	Aorta
13	chr1:186275000-186284000	Weak transcription	Esophagus	oesophagus
14	chr1:186275000-186284000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:186275000-186284000	Weak transcription	Lung	lung
16	chr1:186275000-186284000	Weak transcription	Right Ventricle	heart
17	chr1:186275000-186284800	Weak transcription	Brain Substantia Nigra	brain
18	chr1:186275000-186286200	Weak transcription	Psoas Muscle	Psoas
19	chr1:186275200-186281400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:186275200-186284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:186275600-186283600	Weak transcription	HSMMtube	muscle
22	chr1:186276400-186281800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:186276600-186281400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:186276600-186281600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:186276800-186284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:186276800-186285800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:186277000-186283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:186277600-186281400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:186277600-186281400	Weak transcription	GM12878-XiMat	blood
30	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
33	chr1:186278000-186281400	Weak transcription	Fetal Kidney	kidney
34	chr1:186278000-186284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:186278000-186284000	Weak transcription	Fetal Stomach	stomach
36	chr1:186278000-186284000	Weak transcription	Thymus	Thymus
37	chr1:186278200-186281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:186278200-186281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:186278200-186281800	Weak transcription	K562	blood
40	chr1:186278200-186284000	Weak transcription	Ovary	ovary
41	chr1:186278200-186284000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:186278400-186281400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:186278400-186284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:186278400-186284000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:186278600-186281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:186278600-186281400	Weak transcription	Fetal Brain Female	brain
48	chr1:186278600-186281600	Weak transcription	Brain Germinal Matrix	brain
49	chr1:186278600-186292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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