Variant report

Variant	rs6724719
Chromosome Location	chr2:148764890-148764891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148762432..148764977-chr2:148778675..148780305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115947	Chromatin interaction
ENSG00000204406	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1015096	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10178849	0.91[ASN][1000 genomes]
rs10186643	0.86[EUR][1000 genomes]
rs10199458	0.91[ASN][1000 genomes]
rs10207309	0.87[ASN][1000 genomes]
rs10460259	0.81[ASN][1000 genomes]
rs11886876	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11888152	0.82[ASN][1000 genomes]
rs11896010	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902430	0.88[ASN][1000 genomes]
rs12053401	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105411	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234396	0.81[AFR][1000 genomes]
rs12463554	0.99[EUR][1000 genomes]
rs12470955	0.89[ASN][1000 genomes]
rs12473564	0.98[EUR][1000 genomes]
rs12476827	0.99[EUR][1000 genomes]
rs12691772	0.89[ASN][1000 genomes]
rs12691773	0.91[ASN][1000 genomes]
rs12691774	0.89[ASN][1000 genomes]
rs12691775	0.89[ASN][1000 genomes]
rs12691777	0.87[ASN][1000 genomes]
rs12691778	0.81[ASN][1000 genomes]
rs12691779	0.87[ASN][1000 genomes]
rs12989250	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12992231	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12992412	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12995413	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12997165	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13003171	0.98[EUR][1000 genomes]
rs13007770	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008838	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13012455	0.98[EUR][1000 genomes]
rs13014936	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015655	0.89[ASN][1000 genomes]
rs13021605	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022962	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027706	0.83[ASN][1000 genomes]
rs13028348	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029038	0.98[EUR][1000 genomes]
rs13031064	0.83[ASN][1000 genomes]
rs13032786	0.96[EUR][1000 genomes]
rs13032810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033664	0.99[EUR][1000 genomes]
rs13035475	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1345994	0.81[ASN][1000 genomes]
rs1449959	0.88[ASN][1000 genomes]
rs1531032	0.81[ASN][1000 genomes]
rs1598207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823447	0.89[ASN][1000 genomes]
rs1901014	0.89[ASN][1000 genomes]
rs1975748	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2084578	0.87[ASN][1000 genomes]
rs2168145	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2307394	0.82[ASN][1000 genomes]
rs2382201	0.99[EUR][1000 genomes]
rs2890915	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34539489	0.83[ASN][1000 genomes]
rs35283425	0.89[ASN][1000 genomes]
rs4001	0.89[ASN][1000 genomes]
rs4417662	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4436897	0.89[ASN][1000 genomes]
rs4972320	0.98[EUR][1000 genomes]
rs4972321	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972322	0.92[ASN][1000 genomes]
rs4972329	0.86[ASN][1000 genomes]
rs57679331	0.83[ASN][1000 genomes]
rs6430281	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430282	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6430285	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6430286	0.91[ASN][1000 genomes]
rs6430289	0.89[ASN][1000 genomes]
rs6430292	0.89[ASN][1000 genomes]
rs6430295	0.83[ASN][1000 genomes]
rs6711686	0.87[ASN][1000 genomes]
rs6714672	0.89[ASN][1000 genomes]
rs6729465	0.83[ASN][1000 genomes]
rs6729804	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6730641	0.91[ASN][1000 genomes]
rs6732463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71350069	0.98[EUR][1000 genomes]
rs72855232	0.98[EUR][1000 genomes]
rs7425436	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7560425	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569780	0.89[ASN][1000 genomes]
rs7592576	0.91[ASN][1000 genomes]
rs7594075	0.82[ASN][1000 genomes]
rs7595067	0.91[ASN][1000 genomes]
rs7598361	0.99[EUR][1000 genomes]
rs7604592	0.88[ASN][1000 genomes]
rs897172	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9789434	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9789640	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1009807	chr2:148731025-148829378	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv535973	chr2:148731025-148829378	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1009696	chr2:148739650-148805668	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv535974	chr2:148739650-148805668	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1011381	chr2:148739850-148805529	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv535975	chr2:148739850-148805529	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv999777	chr2:148740742-148809464	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1015003	chr2:148745734-148839653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1005805	chr2:148755022-148842566	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv535976	chr2:148755022-148842566	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	esv3361276	chr2:148756269-148781613	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:148728200-148773400	Weak transcription	K562	blood
4	chr2:148736000-148776800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:148736400-148765600	Weak transcription	A549	lung
6	chr2:148748000-148771400	Weak transcription	Fetal Kidney	kidney
7	chr2:148753400-148765200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:148753400-148765800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:148753400-148775800	Weak transcription	Thymus	Thymus
10	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:148753400-148777600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:148754000-148765000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:148756400-148768800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:148757200-148770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:148757200-148777600	Weak transcription	Small Intestine	intestine
17	chr2:148757600-148776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:148758600-148774200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:148758800-148775400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:148759000-148775400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:148759400-148775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:148761400-148772200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:148762600-148766400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:148763800-148773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:148764200-148765600	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr2:148764400-148765200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:148764400-148765800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:148764400-148766200	Weak transcription	Esophagus	oesophagus
29	chr2:148764400-148773800	Weak transcription	Left Ventricle	heart
30	chr2:148764400-148776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:148764400-148776800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:148764400-148776800	Weak transcription	Pancreas	Pancrea
33	chr2:148764400-148776800	Weak transcription	Spleen	Spleen
34	chr2:148764600-148768400	Weak transcription	Psoas Muscle	Psoas
35	chr2:148764600-148773800	Weak transcription	HepG2	liver
36	chr2:148764600-148776600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:148764600-148776800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:148764600-148777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:148764600-148777600	Weak transcription	Lung	lung
40	chr2:148764800-148766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:148764800-148767400	Weak transcription	Liver	Liver
42	chr2:148764800-148767600	Weak transcription	Primary T cells from cord blood	blood
43	chr2:148764800-148775800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:148764800-148776400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:148764800-148776600	Weak transcription	Primary B cells from cord blood	blood
46	chr2:148764800-148776600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:148764800-148776800	Weak transcription	Right Atrium	heart

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