Variant report

Variant	rs34181173
Chromosome Location	chr3:52360647-52360648
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	chr3:52355477..52357613-chr3:52358216..52360675,2	K562	blood:
2	chr3:52321124..52323557-chr3:52359639..52361279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168237	Chromatin interaction
ENSG00000164091	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1035002	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11706001	0.87[ASN][1000 genomes]
rs11707864	1.00[ASN][1000 genomes]
rs11707931	1.00[ASN][1000 genomes]
rs11709658	1.00[ASN][1000 genomes]
rs11716017	1.00[ASN][1000 genomes]
rs123598	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs123603	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060192	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13071708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13074649	0.87[AMR][1000 genomes]
rs13075370	1.00[ASN][1000 genomes]
rs13076508	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13091360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13093555	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13096571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098856	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs164636	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs164637	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17052068	1.00[ASN][1000 genomes]
rs2109557	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215466	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2335640	1.00[ASN][1000 genomes]
rs2878549	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34332947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355561	1.00[ASN][1000 genomes]
rs34385735	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34551211	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34628357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762015	1.00[ASN][1000 genomes]
rs34827613	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34908451	1.00[ASN][1000 genomes]
rs35130772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35133416	1.00[ASN][1000 genomes]
rs352141	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs352144	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs353545	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353548	0.88[EUR][1000 genomes]
rs35982798	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752819	1.00[ASN][1000 genomes]
rs3755810	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3774409	0.87[AMR][1000 genomes]
rs3796342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs409803	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs419050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419752	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687541	0.87[AMR][1000 genomes]
rs498778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357549	1.00[ASN][1000 genomes]
rs575476	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61150019	1.00[ASN][1000 genomes]
rs613519	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61734640	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67248391	1.00[ASN][1000 genomes]
rs676034	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6763882	0.87[ASN][1000 genomes]
rs6771558	0.87[AMR][1000 genomes]
rs67834575	1.00[ASN][1000 genomes]
rs6794675	1.00[ASN][1000 genomes]
rs6795333	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71297391	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71297394	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71297395	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71297396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850471	0.87[AMR][1000 genomes]
rs9855470	0.87[AMR][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:63 , 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	chr3:52350600-52362400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:52352000-52361400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:52352000-52362200	Weak transcription	Thymus	Thymus
8	chr3:52352000-52365000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:52352000-52365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:52352000-52365800	Weak transcription	Aorta	Aorta
11	chr3:52352000-52367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:52352000-52379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:52352200-52362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:52352200-52364800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:52352200-52370800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:52352200-52379000	Weak transcription	Colonic Mucosa	Colon
17	chr3:52352200-52382000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:52352200-52384600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:52352400-52360800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:52352400-52361200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:52352400-52364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:52352400-52364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:52352400-52365200	Weak transcription	Placenta	Placenta
24	chr3:52352400-52366000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:52352400-52366000	Weak transcription	Adipose Nuclei	Adipose
26	chr3:52352400-52366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:52352600-52362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:52352600-52362600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:52352600-52365400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:52352600-52373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:52352600-52379400	Weak transcription	Pancreas	Pancrea
32	chr3:52352800-52365800	Weak transcription	Brain Anterior Caudate	brain
33	chr3:52352800-52365800	Weak transcription	Gastric	stomach
34	chr3:52353200-52364400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:52353400-52377400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:52354400-52379800	Weak transcription	Esophagus	oesophagus
37	chr3:52354800-52384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:52357000-52366200	Weak transcription	Primary B cells from cord blood	blood
39	chr3:52357200-52365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:52357400-52361600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:52357800-52361800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:52358000-52362400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:52358200-52362400	Weak transcription	Primary T cells from cord blood	blood
44	chr3:52358200-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:52358400-52360800	Weak transcription	Fetal Intestine Large	intestine
46	chr3:52358400-52363600	Strong transcription	Fetal Intestine Small	intestine
47	chr3:52358400-52365800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:52358400-52370200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:52358400-52380400	Weak transcription	Ovary	ovary
50	chr3:52358600-52364200	Weak transcription	Left Ventricle	heart

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