Variant report

Variant	rs34551211
Chromosome Location	chr3:52286825-52286826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52286679..52290007-chr3:52290235..52292692,3	K562	blood:
2	chr3:52286492..52290913-chr3:52310452..52313639,5	K562	blood:
3	chr3:52280415..52283175-chr3:52286426..52288417,3	MCF-7	breast:
4	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:

Variant related genes	Relation type
ENSG00000164088	Chromatin interaction
ENSG00000164091	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1035002	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs104902	0.92[ASN][1000 genomes]
rs1077142	1.00[JPT][hapmap]
rs11707864	1.00[JPT][hapmap]
rs11707931	1.00[JPT][hapmap]
rs11709658	1.00[JPT][hapmap]
rs11711934	1.00[JPT][hapmap]
rs11714402	1.00[JPT][hapmap]
rs11716017	1.00[JPT][hapmap]
rs11718125	1.00[JPT][hapmap]
rs123598	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs123602	1.00[JPT][hapmap]
rs123603	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13059674	1.00[JPT][hapmap]
rs13060192	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes]
rs13065677	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13071708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13074649	0.82[AMR][1000 genomes]
rs13075370	1.00[JPT][hapmap]
rs13076508	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13076890	1.00[JPT][hapmap]
rs13089892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13091360	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13091545	1.00[JPT][hapmap]
rs13093555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096571	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13098856	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164636	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17052061	1.00[JPT][hapmap]
rs17052068	1.00[JPT][hapmap]
rs2016575	1.00[JPT][hapmap]
rs2109557	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2215466	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2335640	1.00[JPT][hapmap]
rs2878549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34181173	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34332947	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34385735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34628357	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34762015	1.00[JPT][hapmap]
rs34827613	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35130772	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs352141	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352142	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs352143	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs352144	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs352173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs353545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35860312	1.00[JPT][hapmap]
rs35982798	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3755810	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3774409	0.82[AMR][1000 genomes]
rs3774410	1.00[JPT][hapmap]
rs3796342	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796343	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs390802	1.00[JPT][hapmap]
rs409803	1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap]
rs419050	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs419604	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs419752	0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4687541	0.82[AMR][1000 genomes]
rs498778	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs498946	1.00[JPT][hapmap]
rs575476	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs613519	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs61734640	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs634382	1.00[JPT][hapmap]
rs6445386	1.00[JPT][hapmap]
rs676034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs6763882	1.00[JPT][hapmap]
rs6771558	0.82[AMR][1000 genomes]
rs6795333	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6796333	1.00[JPT][hapmap]
rs71297391	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71297394	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71297395	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71297396	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs82825	1.00[JPT][hapmap]
rs9844183	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9850471	0.82[AMR][1000 genomes]
rs9855470	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
3	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv876790	chr3:52261382-52286825	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv876791	chr3:52269491-52286825	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52279600-52287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:52280200-52287600	Weak transcription	HMEC	breast
3	chr3:52280200-52287800	Weak transcription	Small Intestine	intestine
4	chr3:52280200-52290000	Weak transcription	Ovary	ovary
5	chr3:52280400-52287000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:52280400-52291200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:52280600-52287000	Weak transcription	HSMMtube	muscle
8	chr3:52280600-52287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:52280600-52288200	Weak transcription	Fetal Kidney	kidney
10	chr3:52280600-52290800	Weak transcription	Psoas Muscle	Psoas
11	chr3:52280600-52292400	Weak transcription	Fetal Heart	heart
12	chr3:52280800-52287400	Weak transcription	K562	blood
13	chr3:52280800-52292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:52281000-52287200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:52281000-52291800	Strong transcription	Fetal Intestine Small	intestine
16	chr3:52281200-52287800	Strong transcription	Fetal Stomach	stomach
17	chr3:52281400-52287600	Strong transcription	Fetal Brain Female	brain
18	chr3:52281600-52287000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:52281600-52287200	Genic enhancers	Fetal Thymus	thymus
20	chr3:52281600-52287400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:52281600-52287400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:52281600-52287400	Weak transcription	HepG2	liver
23	chr3:52281800-52287200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:52281800-52287200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:52281800-52287400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:52281800-52288200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:52281800-52303400	Weak transcription	Right Atrium	heart
28	chr3:52282000-52287600	Strong transcription	Adipose Nuclei	Adipose
29	chr3:52282000-52298800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:52282000-52299400	Strong transcription	Liver	Liver
31	chr3:52282200-52287000	Strong transcription	Dnd41	blood
32	chr3:52282200-52287400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr3:52282200-52287600	Strong transcription	Brain Anterior Caudate	brain
34	chr3:52282200-52287600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:52282200-52293200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:52282200-52303000	Strong transcription	Fetal Lung	lung
37	chr3:52282200-52310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:52282400-52297200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:52282400-52309600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:52282600-52289400	Weak transcription	Fetal Brain Male	brain
41	chr3:52282600-52304000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:52282600-52308200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:52282800-52287000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:52282800-52287200	Strong transcription	Placenta	Placenta
45	chr3:52282800-52287600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:52282800-52288000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr3:52282800-52303800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:52282800-52305000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:52283000-52287400	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:52283000-52287800	Strong transcription	Fetal Intestine Large	intestine

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