Variant report

Variant	rs13068454
Chromosome Location	chr3:141336557-141336558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141331251..141333372-chr3:141334736..141336860,2	K562	blood:
2	chr3:141331872..141333537-chr3:141335143..141336860,2	K562	blood:
3	chr3:141325633..141327918-chr3:141334802..141336687,2	MCF-7	breast:
4	chr3:141323458..141325878-chr3:141335451..141337403,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1077181	0.92[CEU][hapmap]
rs11557453	0.84[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11707656	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11709875	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs11711318	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11713714	0.85[EUR][1000 genomes]
rs11714208	0.88[CEU][hapmap];0.89[YRI][hapmap]
rs11716776	0.84[EUR][1000 genomes]
rs11717144	0.96[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11717842	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12695735	0.92[CEU][hapmap]
rs12695736	0.84[EUR][1000 genomes]
rs12695740	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs12695741	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12695743	0.88[CEU][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13059128	0.84[CEU][hapmap]
rs13067519	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13072100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs13078872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13083593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs13084444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13088429	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs13095168	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13099945	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs1863870	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2312194	0.80[EUR][1000 genomes]
rs2312266	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34342794	0.80[EUR][1000 genomes]
rs4334619	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs720663	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs9289629	0.92[CEU][hapmap]
rs9289634	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs9808953	0.96[CEU][hapmap]
rs9822575	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9829588	0.89[EUR][1000 genomes]
rs9830055	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9833121	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9836050	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9836818	0.80[EUR][1000 genomes]
rs9837202	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs9838419	0.80[EUR][1000 genomes]
rs9840159	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9840697	0.80[EUR][1000 genomes]
rs9843866	0.80[EUR][1000 genomes]
rs9849180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9850416	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9865971	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs9868956	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs9870749	0.96[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9873042	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:141320400-141337200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:141321800-141342600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:141325000-141338000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:141330000-141338800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:141330200-141336600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:141330200-141338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:141330400-141337000	Weak transcription	Lung	lung
10	chr3:141330400-141337400	Weak transcription	HSMMtube	muscle
11	chr3:141330400-141337800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:141330400-141338000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:141330400-141342000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:141330400-141342000	Weak transcription	Pancreas	Pancrea
15	chr3:141330400-141343200	Weak transcription	Brain Angular Gyrus	brain
16	chr3:141330400-141344000	Weak transcription	HMEC	breast
17	chr3:141330400-141344600	Weak transcription	NHLF	lung
18	chr3:141330600-141336800	Weak transcription	Thymus	Thymus
19	chr3:141330600-141337600	Weak transcription	Brain Germinal Matrix	brain
20	chr3:141330600-141338000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:141330600-141338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:141330600-141339000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:141330600-141339200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:141330600-141344200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:141330600-141344200	Weak transcription	Ovary	ovary
26	chr3:141330800-141338400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:141330800-141338400	Weak transcription	Left Ventricle	heart
28	chr3:141330800-141344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:141331600-141338800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:141331800-141338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:141332000-141337600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:141332000-141344600	Weak transcription	NHDF-Ad	bronchial
33	chr3:141332200-141336800	Weak transcription	Liver	Liver
34	chr3:141332200-141337000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:141332200-141337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:141332200-141338200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:141332200-141339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:141332400-141337000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:141332400-141337000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:141332400-141339200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:141332400-141340600	Weak transcription	A549	lung
42	chr3:141332400-141344200	Weak transcription	HSMM	muscle
43	chr3:141332400-141344400	Weak transcription	Osteobl	bone
44	chr3:141332400-141345800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:141332600-141337000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:141333000-141337000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:141333400-141337000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:141333600-141337400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:141333600-141344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:141334000-141338000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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