Variant report

Variant	rs2603605
Chromosome Location	chr2:148800890-148800891
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	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10084287	0.89[AFR][1000 genomes]
rs1037300	0.89[AFR][1000 genomes]
rs10427294	0.83[AFR][1000 genomes]
rs1227474	0.89[AFR][1000 genomes]
rs1227477	0.89[AFR][1000 genomes]
rs1227478	0.89[AFR][1000 genomes]
rs1227480	0.93[AFR][1000 genomes]
rs1227483	0.89[AFR][1000 genomes]
rs1237192	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12623429	0.83[AFR][1000 genomes]
rs1375860	0.89[AFR][1000 genomes]
rs1530757	0.86[AFR][1000 genomes]
rs16828211	0.93[AFR][1000 genomes]
rs16828213	0.93[AFR][1000 genomes]
rs2603601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2627024	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4312431	0.89[AFR][1000 genomes]
rs4383275	0.84[AFR][1000 genomes]
rs4972271	0.82[AFR][1000 genomes]
rs4972335	0.83[AFR][1000 genomes]
rs56986186	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430299	0.83[AFR][1000 genomes]
rs6713738	0.89[AFR][1000 genomes]
rs6728673	0.89[AFR][1000 genomes]
rs6739781	0.86[AFR][1000 genomes]
rs73964199	0.93[AFR][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:64 , 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	chr2:148779800-148801600	Weak transcription	Aorta	Aorta
3	chr2:148779800-148803000	Weak transcription	Lung	lung
4	chr2:148779800-148811600	Weak transcription	Placenta	Placenta
5	chr2:148779800-148814800	Weak transcription	Small Intestine	intestine
6	chr2:148779800-148825600	Weak transcription	Left Ventricle	heart
7	chr2:148780200-148806600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:148780400-148806000	Weak transcription	HSMM	muscle
9	chr2:148780400-148809800	Weak transcription	Fetal Stomach	stomach
10	chr2:148780800-148806400	Weak transcription	HSMMtube	muscle
11	chr2:148781200-148814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:148781600-148813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:148781800-148810000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:148781800-148814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:148781800-148822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:148781800-148829600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:148781800-148833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:148782000-148805600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:148782200-148806000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:148782200-148806200	Weak transcription	K562	blood
21	chr2:148782200-148806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:148782800-148804200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:148784400-148811600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:148786800-148803400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:148787200-148810400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:148790200-148805000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:148791200-148818400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:148792200-148814000	Weak transcription	Pancreas	Pancrea
29	chr2:148792400-148806000	Weak transcription	Ovary	ovary
30	chr2:148795600-148801800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:148795600-148804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:148795600-148807400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:148795800-148804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:148796000-148801800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:148796000-148807600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:148796000-148816600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:148796600-148808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:148797000-148805000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:148797000-148815200	Weak transcription	Liver	Liver
41	chr2:148797200-148804000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:148797400-148804600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:148797800-148801400	Weak transcription	NHEK	skin
44	chr2:148798600-148804600	Weak transcription	Thymus	Thymus
45	chr2:148798800-148806600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:148798800-148813800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:148799200-148802400	Weak transcription	Osteobl	bone
48	chr2:148799200-148811400	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:148799200-148811600	Weak transcription	Fetal Thymus	thymus
50	chr2:148799200-148814000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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