Variant report

Variant	rs13074649
Chromosome Location	chr3:52494141-52494142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52492812..52495324-chr3:52591593..52594438,2	K562	blood:
2	chr3:52489093..52491029-chr3:52494087..52496804,3	MCF-7	breast:
3	chr3:52478524..52480159-chr3:52492994..52494619,2	MCF-7	breast:
4	chr3:52492633..52495296-chr3:52719362..52721051,2	MCF-7	breast:
5	chr3:52493352..52494943-chr3:52546751..52548453,2	K562	blood:
6	chr3:52493353..52494882-chr3:52496416..52498026,2	K562	blood:

Variant related genes	Relation type
ENSG00000163938	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000010319	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1011062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035002	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1035003	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865972	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11721286	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs123598	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs123603	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13065677	0.87[AMR][1000 genomes]
rs13071708	0.87[AMR][1000 genomes]
rs13076508	0.87[AMR][1000 genomes]
rs13089892	0.87[AMR][1000 genomes]
rs13091360	0.87[AMR][1000 genomes]
rs13093555	0.82[AMR][1000 genomes]
rs13096571	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13098856	0.87[AMR][1000 genomes]
rs1541495	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs164636	0.82[AMR][1000 genomes]
rs164637	0.82[AMR][1000 genomes]
rs2109557	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2109558	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2109559	0.93[EUR][1000 genomes]
rs2215466	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335928	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335929	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878549	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34181173	0.87[AMR][1000 genomes]
rs34332947	0.87[AMR][1000 genomes]
rs34385735	0.82[AMR][1000 genomes]
rs34551211	0.82[AMR][1000 genomes]
rs34628357	0.87[AMR][1000 genomes]
rs34827613	0.91[AMR][1000 genomes]
rs35130772	0.87[AMR][1000 genomes]
rs353545	0.82[AMR][1000 genomes]
rs35371456	0.83[AFR][1000 genomes]
rs3755810	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796342	0.87[AMR][1000 genomes]
rs409803	0.81[EUR][1000 genomes]
rs419050	0.91[AMR][1000 genomes]
rs419604	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs419752	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4312651	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687543	0.85[EUR][1000 genomes]
rs4687544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687614	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687616	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4687617	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4687618	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687619	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687621	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498778	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs575476	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs613519	0.81[EUR][1000 genomes]
rs6414568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445483	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445484	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445485	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445486	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445506	0.93[EUR][1000 genomes]
rs676034	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782162	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784615	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6787493	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6795333	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6810027	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71297396	0.87[AMR][1000 genomes]
rs728408	0.93[EUR][1000 genomes]
rs758800	1.00[EUR][1000 genomes]
rs758803	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620015	0.93[EUR][1000 genomes]
rs887514	0.93[EUR][1000 genomes]
rs929528	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929529	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968588	0.85[AMR][1000 genomes]
rs9846089	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9847332	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863753	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9867823	1.00[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers 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 target site	37 gene(s)	inside rSNPs	diseases
6	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv876794	chr3:52485876-52496229	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52490800-52499200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:52491200-52498800	Strong transcription	Primary T cells from cord blood	blood
3	chr3:52491400-52495400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:52491400-52497200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:52491400-52500000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:52491400-52501600	Weak transcription	Right Atrium	heart
7	chr3:52491400-52502200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:52491600-52495400	Strong transcription	Fetal Lung	lung
9	chr3:52491600-52496800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:52491600-52499600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:52491600-52500000	Strong transcription	Fetal Intestine Large	intestine
12	chr3:52491600-52500600	Strong transcription	Fetal Intestine Small	intestine
13	chr3:52491600-52509400	Weak transcription	Small Intestine	intestine
14	chr3:52491600-52528000	Strong transcription	Thymus	Thymus
15	chr3:52491800-52495000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:52491800-52495400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:52491800-52495400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:52491800-52495400	Strong transcription	Adipose Nuclei	Adipose
19	chr3:52491800-52495400	Strong transcription	Fetal Kidney	kidney
20	chr3:52491800-52495400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:52491800-52495600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:52491800-52496000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:52491800-52496400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:52491800-52496600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:52491800-52496800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:52491800-52496800	Strong transcription	Brain Anterior Caudate	brain
27	chr3:52491800-52497200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:52491800-52497200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr3:52491800-52497400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr3:52491800-52497400	Strong transcription	Rectal Smooth Muscle	rectum
31	chr3:52491800-52498400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:52491800-52498600	Strong transcription	Liver	Liver
33	chr3:52491800-52499400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:52491800-52499400	Strong transcription	Osteobl	bone
35	chr3:52491800-52499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:52491800-52500000	Strong transcription	Lung	lung
37	chr3:52491800-52500200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:52491800-52502400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:52491800-52502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:52491800-52502800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:52491800-52506400	Weak transcription	Stomach Mucosa	stomach
42	chr3:52491800-52517200	Strong transcription	Fetal Stomach	stomach
43	chr3:52491800-52524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:52491800-52527000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:52491800-52528200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:52491800-52528200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:52492000-52494600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:52492000-52495000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:52492000-52495400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:52492000-52495400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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