Variant report

Variant	rs3113000
Chromosome Location	chr2:95849653-95849654
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	chr2:95838743..95840381-chr2:95848482..95850065,2	K562	blood:
2	chr2:95841614..95845091-chr2:95847928..95851123,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10195614	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1104775	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992066	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17119148	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1875402	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1966272	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2001254	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010533	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2098768	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291991	0.83[EUR][1000 genomes]
rs2320339	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2320619	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2320620	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2320621	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2320624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3105100	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105101	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105104	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105105	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112222	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112223	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112225	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112228	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112229	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3112230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112231	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112982	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3112983	0.83[EUR][1000 genomes]
rs3112984	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3112985	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3112986	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3112987	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112990	0.83[ASN][1000 genomes]
rs3112995	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112996	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112997	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3112999	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3113001	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755525	0.80[EUR][1000 genomes]
rs3772043	0.80[EUR][1000 genomes]
rs3772044	0.83[EUR][1000 genomes]
rs4854243	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4854244	0.84[EUR][1000 genomes]
rs4854247	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854249	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6719098	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723333	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6725821	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7585473	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7585914	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586229	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs872580	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95832800-95850200	Weak transcription	Hela-S3	cervix
2	chr2:95838400-95851400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:95840400-95850200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:95841200-95850200	Strong transcription	HepG2	liver
5	chr2:95843000-95850200	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:95843200-95849800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:95843200-95850000	ZNF genes & repeats	Liver	Liver
8	chr2:95844000-95851000	Weak transcription	Stomach Mucosa	stomach
9	chr2:95847400-95850600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:95847800-95849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:95847800-95850000	Strong transcription	Adipose Nuclei	Adipose
12	chr2:95847800-95850000	Weak transcription	K562	blood
13	chr2:95847800-95851200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:95847800-95851200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:95847800-95851800	Weak transcription	Small Intestine	intestine
16	chr2:95847800-95852200	Weak transcription	NHEK	skin
17	chr2:95848000-95849800	Strong transcription	Fetal Stomach	stomach
18	chr2:95848000-95850600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:95848000-95851400	Weak transcription	Spleen	Spleen
20	chr2:95848000-95853000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:95848000-95853000	Weak transcription	NHDF-Ad	bronchial
22	chr2:95848000-95854000	Weak transcription	Esophagus	oesophagus
23	chr2:95848200-95849800	Weak transcription	Fetal Thymus	thymus
24	chr2:95848200-95850000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:95848200-95850600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:95848200-95851000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:95848200-95851000	Weak transcription	Thymus	Thymus
28	chr2:95848200-95851600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:95848200-95851800	Weak transcription	Osteobl	bone
30	chr2:95848200-95853600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:95848400-95850400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:95848400-95850600	Weak transcription	Dnd41	blood
33	chr2:95848400-95851400	Weak transcription	Pancreas	Pancrea
34	chr2:95848400-95851600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:95848400-95851600	Weak transcription	Fetal Lung	lung
36	chr2:95848600-95849800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:95848600-95850000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:95848600-95850200	Weak transcription	Fetal Kidney	kidney
39	chr2:95848600-95850200	Weak transcription	HMEC	breast
40	chr2:95848600-95850400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:95848600-95850400	Weak transcription	Colonic Mucosa	Colon
42	chr2:95848600-95851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:95848600-95851800	Weak transcription	HSMMtube	muscle
44	chr2:95848600-95852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:95848600-95852600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:95848600-95852600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:95848600-95852600	Weak transcription	Fetal Brain Male	brain
48	chr2:95848600-95852800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:95848600-95853600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:95848800-95849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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