Variant report

Variant	rs4538344
Chromosome Location	chr3:56645557-56645558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs13060656	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13068670	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074639	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13080003	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086565	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13088166	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089169	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13089332	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13090343	0.89[ASN][1000 genomes]
rs13095165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825529	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1826119	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097767	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34171578	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284682	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34349699	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34480364	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34720351	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869541	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34885435	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34911835	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953718	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35070694	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35286628	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564119	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35677810	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35689307	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35728519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785755	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940731	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36029237	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36064180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36131262	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4060982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6807338	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309961	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71309962	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71309963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71309964	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309965	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309972	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309973	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71309975	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71621834	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7431634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56603200-56650400	Weak transcription	K562	blood
2	chr3:56606200-56650200	Weak transcription	Colonic Mucosa	Colon
3	chr3:56607800-56650200	Weak transcription	Psoas Muscle	Psoas
4	chr3:56625200-56650400	Weak transcription	NHEK	skin
5	chr3:56625200-56653400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:56626400-56656200	Weak transcription	Stomach Mucosa	stomach
7	chr3:56628600-56649600	Weak transcription	HepG2	liver
8	chr3:56629000-56647400	Weak transcription	HUVEC	blood vessel
9	chr3:56629000-56648000	Weak transcription	NH-A	brain
10	chr3:56629600-56648200	Weak transcription	NHDF-Ad	bronchial
11	chr3:56630000-56654400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:56630600-56645800	Weak transcription	HSMM	muscle
13	chr3:56630800-56645600	Weak transcription	Hela-S3	cervix
14	chr3:56633800-56647800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:56634000-56651400	Weak transcription	Fetal Brain Male	brain
16	chr3:56640000-56650000	Weak transcription	HMEC	breast
17	chr3:56640400-56650800	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:56640600-56646800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:56640600-56647200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:56640600-56647600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:56640600-56647800	Weak transcription	GM12878-XiMat	blood
22	chr3:56640600-56650400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:56640600-56652600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:56640800-56645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:56640800-56645600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:56640800-56645600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:56640800-56645600	Weak transcription	Fetal Intestine Large	intestine
28	chr3:56640800-56645600	Weak transcription	Placenta	Placenta
29	chr3:56640800-56645800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:56640800-56646000	Weak transcription	Spleen	Spleen
31	chr3:56640800-56646200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:56640800-56646400	Weak transcription	Esophagus	oesophagus
33	chr3:56640800-56646400	Weak transcription	Gastric	stomach
34	chr3:56640800-56646600	Weak transcription	Aorta	Aorta
35	chr3:56640800-56646800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:56640800-56647000	Weak transcription	Liver	Liver
37	chr3:56640800-56647200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:56640800-56647400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr3:56640800-56647400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:56640800-56647400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:56640800-56647600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:56640800-56647600	Weak transcription	Brain Angular Gyrus	brain
43	chr3:56640800-56647800	Weak transcription	Dnd41	blood
44	chr3:56640800-56649400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:56640800-56649400	Weak transcription	Osteobl	bone
46	chr3:56640800-56649800	Weak transcription	Fetal Kidney	kidney
47	chr3:56640800-56650400	Weak transcription	NHLF	lung
48	chr3:56640800-56650600	Weak transcription	HSMMtube	muscle
49	chr3:56640800-56650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:56640800-56664200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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