Variant report

Variant	rs9845752
Chromosome Location	chr3:52362879-52362880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52361577..52363377-chr3:52366056..52367676,2	K562	blood:
2	chr3:52361669..52364614-chr3:52373969..52375582,2	K562	blood:
3	chr3:52360882..52363484-chr3:52441605..52444587,2	K562	blood:
4	chr3:52357493..52359096-chr3:52362308..52364456,2	K562	blood:

Variant related genes	Relation type
ENSG00000163930	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10212560	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10440116	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10865972	1.00[YRI][hapmap]
rs13318570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1541495	1.00[YRI][hapmap]
rs17052143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28434358	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636773	1.00[EUR][1000 genomes]
rs34540591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687614	1.00[YRI][hapmap]
rs5743834	1.00[EUR][1000 genomes]
rs6445259	1.00[MEX][hapmap]
rs7652984	1.00[MEX][hapmap]
rs9813448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813468	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813489	1.00[EUR][1000 genomes]
rs9813653	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814016	1.00[EUR][1000 genomes]
rs9815559	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9821916	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828488	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834363	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834919	1.00[EUR][1000 genomes]
rs9836166	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9842960	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9843055	1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844178	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9857947	1.00[EUR][1000 genomes]
rs9863874	1.00[EUR][1000 genomes]
rs9868332	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
3	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
4	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
5	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
7	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52328200-52366000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:52328800-52367600	Weak transcription	Brain Substantia Nigra	brain
3	chr3:52330400-52378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:52344600-52378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:52352000-52365000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:52352000-52365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:52352000-52365800	Weak transcription	Aorta	Aorta
8	chr3:52352000-52367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:52352000-52379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:52352200-52364800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:52352200-52370800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:52352200-52379000	Weak transcription	Colonic Mucosa	Colon
13	chr3:52352200-52382000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:52352200-52384600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:52352400-52364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:52352400-52364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:52352400-52365200	Weak transcription	Placenta	Placenta
18	chr3:52352400-52366000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:52352400-52366000	Weak transcription	Adipose Nuclei	Adipose
20	chr3:52352400-52366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:52352600-52365400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:52352600-52373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:52352600-52379400	Weak transcription	Pancreas	Pancrea
24	chr3:52352800-52365800	Weak transcription	Brain Anterior Caudate	brain
25	chr3:52352800-52365800	Weak transcription	Gastric	stomach
26	chr3:52353200-52364400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:52353400-52377400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:52354400-52379800	Weak transcription	Esophagus	oesophagus
29	chr3:52354800-52384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52357000-52366200	Weak transcription	Primary B cells from cord blood	blood
31	chr3:52357200-52365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:52358200-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:52358400-52363600	Strong transcription	Fetal Intestine Small	intestine
34	chr3:52358400-52365800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:52358400-52370200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:52358400-52380400	Weak transcription	Ovary	ovary
37	chr3:52358600-52364200	Weak transcription	Left Ventricle	heart
38	chr3:52358600-52364600	Weak transcription	Lung	lung
39	chr3:52358800-52364400	Weak transcription	Right Ventricle	heart
40	chr3:52360400-52364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:52360400-52376200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:52360800-52364400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:52361000-52367800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:52361200-52363000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:52361400-52366200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:52361400-52366200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:52361800-52368400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:52362000-52364600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:52362200-52365200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:52362200-52375000	Weak transcription	Fetal Thymus	thymus

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