Variant report

Variant	rs17075984
Chromosome Location	chr3:43798393-43798394
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	chr3:43793402..43795925-chr3:43797960..43799733,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17075993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9846923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9879791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876733	chr3:43768018-43854669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43793800-43798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:43793800-43800200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:43794400-43800000	Weak transcription	Right Ventricle	heart
4	chr3:43795600-43799600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:43795600-43800000	Weak transcription	A549	lung
6	chr3:43795600-43801200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:43795800-43798800	Weak transcription	Adipose Nuclei	Adipose
8	chr3:43795800-43799000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:43795800-43799600	Weak transcription	Right Atrium	heart
10	chr3:43795800-43800600	Weak transcription	Lung	lung
11	chr3:43795800-43800600	Weak transcription	Psoas Muscle	Psoas
12	chr3:43796000-43799000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:43796000-43799200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:43796000-43799800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:43796000-43800000	Weak transcription	Fetal Heart	heart
16	chr3:43796000-43800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:43796000-43800200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:43796200-43798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:43796200-43800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:43796200-43800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:43796200-43800600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:43796400-43798600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:43796400-43799400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:43796400-43799600	Enhancers	Primary T cells from cord blood	blood
25	chr3:43796600-43799200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:43796600-43799400	Weak transcription	HSMMtube	muscle
27	chr3:43796600-43799400	Weak transcription	Osteobl	bone
28	chr3:43796600-43800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:43796600-43800200	Weak transcription	HUVEC	blood vessel
30	chr3:43796600-43800400	Weak transcription	NH-A	brain
31	chr3:43796800-43800000	Weak transcription	HMEC	breast
32	chr3:43797000-43800400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:43797000-43800600	Weak transcription	NHEK	skin
34	chr3:43797000-43819000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:43797200-43798800	Weak transcription	Hela-S3	cervix
36	chr3:43797200-43800400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:43797400-43798600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:43797400-43799200	Weak transcription	HSMM	muscle
39	chr3:43797400-43799200	Weak transcription	K562	blood
40	chr3:43797400-43799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:43797400-43800200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:43797400-43800400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:43797600-43798800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:43797600-43799000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:43797600-43799400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:43797600-43801400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:43797600-43801800	Enhancers	Fetal Intestine Small	intestine
48	chr3:43797800-43799400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:43797800-43800200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:43797800-43802000	Enhancers	Fetal Intestine Large	intestine

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