Variant report

Variant	rs13032786
Chromosome Location	chr2:148803672-148803673
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
2	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
3	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
4	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015096	0.95[EUR][1000 genomes]
rs10186643	0.89[EUR][1000 genomes]
rs10497026	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11886876	0.95[EUR][1000 genomes]
rs11896010	0.97[EUR][1000 genomes]
rs12053401	0.94[EUR][1000 genomes]
rs12463554	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12469509	0.81[AMR][1000 genomes]
rs12472459	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12473564	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12476827	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12989250	0.97[EUR][1000 genomes]
rs12997165	0.94[EUR][1000 genomes]
rs13001158	0.82[ASN][1000 genomes]
rs13003171	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13006721	0.81[AMR][1000 genomes]
rs13007770	0.95[EUR][1000 genomes]
rs13008838	0.94[EUR][1000 genomes]
rs13012455	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13013887	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13014936	0.94[EUR][1000 genomes]
rs13015552	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13021605	0.97[EUR][1000 genomes]
rs13022962	0.94[EUR][1000 genomes]
rs13028348	0.94[EUR][1000 genomes]
rs13029038	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13032810	0.94[EUR][1000 genomes]
rs13033664	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13035475	0.94[EUR][1000 genomes]
rs1598207	0.96[EUR][1000 genomes]
rs1975748	0.94[EUR][1000 genomes]
rs2122386	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2168145	0.95[EUR][1000 genomes]
rs2382201	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2890915	0.97[EUR][1000 genomes]
rs4417662	0.96[EUR][1000 genomes]
rs4972320	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972321	0.95[EUR][1000 genomes]
rs6430281	0.94[EUR][1000 genomes]
rs6430282	0.94[EUR][1000 genomes]
rs6724719	0.96[EUR][1000 genomes]
rs6729804	0.86[EUR][1000 genomes]
rs6732463	0.96[EUR][1000 genomes]
rs6746415	0.95[EUR][1000 genomes]
rs71350069	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72855232	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7425436	0.90[EUR][1000 genomes]
rs7560425	0.97[EUR][1000 genomes]
rs7583759	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7598361	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs897172	0.95[EUR][1000 genomes]
rs9789434	0.92[EUR][1000 genomes]
rs9789640	0.94[EUR][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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	nsv1014570	chr2:148780080-148869729	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv535978	chr2:148780080-148869729	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:148779800-148811600	Weak transcription	Placenta	Placenta
3	chr2:148779800-148814800	Weak transcription	Small Intestine	intestine
4	chr2:148779800-148825600	Weak transcription	Left Ventricle	heart
5	chr2:148780200-148806600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:148780400-148806000	Weak transcription	HSMM	muscle
7	chr2:148780400-148809800	Weak transcription	Fetal Stomach	stomach
8	chr2:148780800-148806400	Weak transcription	HSMMtube	muscle
9	chr2:148781200-148814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:148781600-148813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:148781800-148810000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:148781800-148814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:148781800-148822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:148781800-148829600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:148781800-148833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:148782000-148805600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:148782200-148806000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:148782200-148806200	Weak transcription	K562	blood
19	chr2:148782200-148806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:148782800-148804200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:148784400-148811600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:148787200-148810400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:148790200-148805000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:148791200-148818400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:148792200-148814000	Weak transcription	Pancreas	Pancrea
26	chr2:148792400-148806000	Weak transcription	Ovary	ovary
27	chr2:148795600-148804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:148795600-148807400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:148795800-148804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:148796000-148807600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:148796000-148816600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:148796600-148808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:148797000-148805000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:148797000-148815200	Weak transcription	Liver	Liver
36	chr2:148797200-148804000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:148797400-148804600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:148798600-148804600	Weak transcription	Thymus	Thymus
39	chr2:148798800-148806600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:148798800-148813800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:148799200-148811400	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:148799200-148811600	Weak transcription	Fetal Thymus	thymus
43	chr2:148799200-148814000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:148799200-148827000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:148799400-148804000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:148799400-148804200	Weak transcription	Primary T cells from cord blood	blood
47	chr2:148799400-148805000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:148799400-148807400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:148799400-148807800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:148799400-148810000	Weak transcription	Primary hematopoietic stem cells	blood

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