Variant report

Variant	rs4280628
Chromosome Location	chr3:51625082-51625083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13321674	1.00[ASW][hapmap]
rs1480366	1.00[AMR][1000 genomes]
rs17051799	1.00[ASW][hapmap]
rs17051802	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051832	1.00[ASW][hapmap]
rs17081501	1.00[ASW][hapmap]
rs4555511	1.00[AMR][1000 genomes]
rs57019473	1.00[AMR][1000 genomes]
rs58075772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58807639	1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs60497133	1.00[AMR][1000 genomes]
rs61452834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943888	1.00[AMR][1000 genomes]
rs72945711	1.00[AMR][1000 genomes]
rs72945738	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945741	1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951489	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953404	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953419	1.00[AMR][1000 genomes]
rs72953421	1.00[AMR][1000 genomes]
rs880477	1.00[AMR][1000 genomes]
rs9809757	1.00[ASW][hapmap]
rs9824779	1.00[ASW][hapmap]
rs9880909	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
2	nsv997264	chr3:51584056-51689648	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536570	chr3:51584056-51689648	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv999553	chr3:51584056-51696052	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51588000-51640000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:51600800-51654600	Weak transcription	Stomach Mucosa	stomach
3	chr3:51601200-51640000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:51602800-51628200	Weak transcription	Small Intestine	intestine
5	chr3:51602800-51643800	Weak transcription	Right Atrium	heart
6	chr3:51613200-51629400	Weak transcription	Fetal Lung	lung
7	chr3:51613200-51630800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:51613200-51640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:51613400-51643600	Weak transcription	Pancreas	Pancrea
10	chr3:51614400-51626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:51615800-51630800	Weak transcription	Psoas Muscle	Psoas
12	chr3:51616600-51640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:51616800-51629000	Weak transcription	Fetal Intestine Small	intestine
14	chr3:51619600-51631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:51619800-51625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:51619800-51627000	Weak transcription	Fetal Kidney	kidney
17	chr3:51622600-51633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:51622800-51625200	Strong transcription	Fetal Stomach	stomach
19	chr3:51622800-51625400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr3:51622800-51625600	Strong transcription	Aorta	Aorta
21	chr3:51622800-51625600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:51622800-51625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:51622800-51625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:51622800-51625800	Strong transcription	HSMM	muscle
25	chr3:51622800-51626000	Strong transcription	Dnd41	blood
26	chr3:51622800-51626400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:51622800-51627600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:51622800-51631600	Strong transcription	Liver	Liver
29	chr3:51623000-51633000	Strong transcription	Primary T cells from cord blood	blood
30	chr3:51623200-51625800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:51623200-51626400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:51623200-51639800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:51623400-51625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:51623400-51631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:51623800-51625800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:51623800-51630600	Weak transcription	Fetal Brain Male	brain
37	chr3:51623800-51631800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:51624200-51625200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr3:51624200-51625600	Strong transcription	Thymus	Thymus
40	chr3:51624200-51625800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:51624200-51625800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr3:51624200-51626000	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:51624200-51626400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:51624200-51626600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:51624200-51626600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:51624200-51627200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:51624200-51631600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:51624400-51625200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:51624400-51625200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:51624400-51625200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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