Variant report

Variant	rs2707220
Chromosome Location	chr2:148811716-148811717
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	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10187392	1.00[EUR][1000 genomes]
rs10497027	1.00[EUR][1000 genomes]
rs10497030	1.00[EUR][1000 genomes]
rs10928370	1.00[EUR][1000 genomes]
rs12620026	1.00[EUR][1000 genomes]
rs13394568	1.00[EUR][1000 genomes]
rs13411618	1.00[EUR][1000 genomes]
rs1364659	1.00[EUR][1000 genomes]
rs1375858	1.00[EUR][1000 genomes]
rs1469212	1.00[EUR][1000 genomes]
rs16828024	1.00[EUR][1000 genomes]
rs16828025	1.00[EUR][1000 genomes]
rs16828096	1.00[EUR][1000 genomes]
rs16828177	1.00[EUR][1000 genomes]
rs16828185	1.00[EUR][1000 genomes]
rs16828243	1.00[EUR][1000 genomes]
rs16828346	1.00[EUR][1000 genomes]
rs16828388	1.00[EUR][1000 genomes]
rs17218917	1.00[EUR][1000 genomes]
rs2627023	1.00[EUR][1000 genomes]
rs2627027	1.00[EUR][1000 genomes]
rs41468049	1.00[EUR][1000 genomes]
rs4972314	1.00[EUR][1000 genomes]
rs4972366	1.00[EUR][1000 genomes]
rs57204245	1.00[EUR][1000 genomes]
rs60605559	1.00[EUR][1000 genomes]
rs6430290	1.00[EUR][1000 genomes]
rs6731167	1.00[EUR][1000 genomes]
rs7578992	1.00[EUR][1000 genomes]
rs7581537	1.00[EUR][1000 genomes]
rs7600254	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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:59 , 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	chr2:148779800-148814800	Weak transcription	Small Intestine	intestine
3	chr2:148779800-148825600	Weak transcription	Left Ventricle	heart
4	chr2:148781200-148814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:148781600-148813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:148781800-148814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:148781800-148822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:148781800-148829600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:148781800-148833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:148791200-148818400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:148792200-148814000	Weak transcription	Pancreas	Pancrea
12	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:148796000-148816600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:148797000-148815200	Weak transcription	Liver	Liver
15	chr2:148798800-148813800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:148799200-148814000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:148799200-148827000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:148799400-148814000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:148799400-148839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:148799400-148844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:148800000-148844600	Weak transcription	Fetal Lung	lung
22	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:148807000-148811800	Weak transcription	HSMM	muscle
24	chr2:148807000-148812000	Weak transcription	Fetal Kidney	kidney
25	chr2:148807000-148813200	Weak transcription	Ovary	ovary
26	chr2:148807000-148814800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:148807000-148834000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:148807000-148844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:148807400-148814000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:148807400-148819000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:148807400-148833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:148807800-148812200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:148807800-148815600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:148807800-148827800	Weak transcription	Brain Germinal Matrix	brain
35	chr2:148808000-148815800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:148808800-148813600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:148809000-148812000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:148810000-148815600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:148810600-148818800	Weak transcription	Fetal Stomach	stomach
40	chr2:148810800-148811800	Weak transcription	Fetal Intestine Large	intestine
41	chr2:148810800-148813200	Weak transcription	HepG2	liver
42	chr2:148810800-148814000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:148810800-148814000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:148810800-148814800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:148810800-148820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:148810800-148821200	Weak transcription	Primary T cells from cord blood	blood
47	chr2:148810800-148826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:148811200-148815600	Weak transcription	NHDF-Ad	bronchial
49	chr2:148811400-148812200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:148811400-148812200	Strong transcription	Fetal Muscle Leg	muscle

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