Variant report

Variant	rs73051979
Chromosome Location	chr3:178896129-178896130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178869093..178870734-chr3:178895152..178896697,2	K562	blood:
2	chr3:178896021..178899660-chr3:178900904..178904164,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10936993	0.96[EUR][1000 genomes]
rs12486399	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12497857	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13320527	0.96[EUR][1000 genomes]
rs1517585	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2865084	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28697961	0.96[EUR][1000 genomes]
rs45455192	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4854906	0.96[EUR][1000 genomes]
rs4854940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4854955	0.96[EUR][1000 genomes]
rs4854976	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4855094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60713157	0.83[EUR][1000 genomes]
rs61404287	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61796464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61796465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61796466	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61796467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61798205	0.83[EUR][1000 genomes]
rs61798206	0.83[EUR][1000 genomes]
rs61798207	0.83[EUR][1000 genomes]
rs61798211	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61798213	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6443623	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6791215	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6804195	0.83[EUR][1000 genomes]
rs73054091	0.92[EUR][1000 genomes]
rs7374077	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7615259	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs950486	0.96[EUR][1000 genomes]
rs9758036	0.83[EUR][1000 genomes]
rs9812252	0.96[EUR][1000 genomes]
rs9819654	0.96[EUR][1000 genomes]
rs9823044	0.96[EUR][1000 genomes]
rs9833206	0.96[EUR][1000 genomes]
rs9860843	0.98[EUR][1000 genomes]
rs9872959	0.96[EUR][1000 genomes]
rs9878005	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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:178870800-178896400	Weak transcription	K562	blood
4	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:178879400-178896400	Weak transcription	Right Atrium	heart
6	chr3:178879600-178896400	Weak transcription	Left Ventricle	heart
7	chr3:178883800-178905800	Weak transcription	Fetal Kidney	kidney
8	chr3:178887200-178912000	Weak transcription	Thymus	Thymus
9	chr3:178888000-178898800	Weak transcription	Fetal Brain Male	brain
10	chr3:178888800-178896800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:178890800-178896600	Weak transcription	Fetal Lung	lung
12	chr3:178892200-178896400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:178892400-178896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:178892800-178897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:178893000-178897600	Weak transcription	Brain Substantia Nigra	brain
16	chr3:178893000-178898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:178893000-178900200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:178893200-178896200	Weak transcription	Primary T cells from cord blood	blood
19	chr3:178893400-178896400	Weak transcription	Psoas Muscle	Psoas
20	chr3:178893400-178896400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:178893400-178896600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:178893400-178896800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:178893400-178898000	Weak transcription	HUVEC	blood vessel
24	chr3:178893400-178898000	Weak transcription	NH-A	brain
25	chr3:178893400-178898200	Weak transcription	GM12878-XiMat	blood
26	chr3:178893600-178896200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:178893600-178898000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:178893800-178896400	Weak transcription	Aorta	Aorta
29	chr3:178893800-178896400	Weak transcription	Small Intestine	intestine
30	chr3:178893800-178896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:178893800-178897400	Weak transcription	Osteobl	bone
32	chr3:178893800-178897600	Weak transcription	NHDF-Ad	bronchial
33	chr3:178893800-178900800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:178894000-178896600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:178894000-178897000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:178894000-178897400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:178894200-178896400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:178894200-178896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:178894200-178896400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:178894200-178896400	Weak transcription	Ovary	ovary
41	chr3:178894200-178896600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:178894200-178897600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:178894200-178898200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:178894200-178899000	Weak transcription	Primary B cells from cord blood	blood
45	chr3:178894200-178905800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:178894400-178896200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:178894400-178896200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:178894400-178896200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:178894400-178896400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:178894400-178896400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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