Variant report

Variant	rs2363465
Chromosome Location	chr2:209150978-209150979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209135233..209137372-chr2:209148836..209151821,2	K562	blood:
2	chr2:209143792..209146656-chr2:209148818..209151029,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10171006	0.85[ASN][1000 genomes]
rs10173938	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10174541	0.95[EUR][1000 genomes]
rs10175739	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10176626	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10177810	0.82[EUR][1000 genomes]
rs10182087	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10186350	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10186531	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10189031	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10194539	0.95[EUR][1000 genomes]
rs10197958	0.82[ASN][1000 genomes]
rs10198535	0.98[EUR][1000 genomes]
rs10201702	0.85[ASN][1000 genomes]
rs10208004	0.88[ASN][1000 genomes]
rs10208191	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10208295	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10210393	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10497897	0.95[EUR][1000 genomes]
rs10497898	0.95[EUR][1000 genomes]
rs10804168	0.85[ASN][1000 genomes]
rs10932256	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10932259	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10932260	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11538998	0.80[CEU][hapmap]
rs11677618	0.88[ASN][1000 genomes]
rs11691208	0.85[ASN][1000 genomes]
rs11691313	0.85[ASN][1000 genomes]
rs11885913	0.90[CEU][hapmap]
rs11895188	0.80[CEU][hapmap]
rs11898653	0.93[EUR][1000 genomes]
rs11901959	0.95[EUR][1000 genomes]
rs12185709	0.90[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12475932	0.90[CEU][hapmap];0.99[EUR][1000 genomes]
rs12479282	0.88[ASN][1000 genomes]
rs12623816	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12694104	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12694105	0.88[ASN][1000 genomes]
rs12694109	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13392540	0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs13395304	0.98[EUR][1000 genomes]
rs13407268	0.82[EUR][1000 genomes]
rs13407897	0.95[EUR][1000 genomes]
rs13412043	0.95[EUR][1000 genomes]
rs1370370	0.85[ASN][1000 genomes]
rs1370375	1.00[JPT][hapmap]
rs1370377	1.00[JPT][hapmap]
rs1437414	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1584200	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1595329	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	0.88[CHB][hapmap]
rs16840864	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16840898	0.85[ASN][1000 genomes]
rs16840910	0.85[ASN][1000 genomes]
rs16840936	0.85[ASN][1000 genomes]
rs16841092	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841231	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17700235	0.90[CEU][hapmap]
rs1866044	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1866045	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1866046	0.90[CEU][hapmap]
rs1898436	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1900239	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304545	0.84[EUR][1000 genomes]
rs2363466	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2363468	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs28418905	0.84[EUR][1000 genomes]
rs2885786	0.83[ASN][1000 genomes]
rs3856350	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4462735	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4673390	0.88[ASN][1000 genomes]
rs4673391	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673392	0.83[ASN][1000 genomes]
rs4673393	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4673395	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4675748	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4675750	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57797425	0.85[ASN][1000 genomes]
rs60446438	0.82[ASN][1000 genomes]
rs6435441	0.85[ASN][1000 genomes]
rs6435443	0.85[ASN][1000 genomes]
rs66887797	0.98[EUR][1000 genomes]
rs6708926	0.85[ASN][1000 genomes]
rs6711933	0.85[ASN][1000 genomes]
rs6713477	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6721780	1.00[JPT][hapmap]
rs6724208	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6725418	0.82[AMR][1000 genomes]
rs6725932	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6733607	0.85[ASN][1000 genomes]
rs6736599	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6742461	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs67669827	0.95[EUR][1000 genomes]
rs67965883	0.86[EUR][1000 genomes]
rs73056463	0.95[EUR][1000 genomes]
rs7355562	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7557303	0.95[EUR][1000 genomes]
rs7569723	0.85[ASN][1000 genomes]
rs7574324	0.85[ASN][1000 genomes]
rs7581075	0.85[ASN][1000 genomes]
rs7583022	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7587752	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7592472	0.82[EUR][1000 genomes]
rs893256	0.85[ASN][1000 genomes]
rs9283521	0.85[ASN][1000 genomes]
rs9288392	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs934712	0.85[ASN][1000 genomes]
rs934714	0.85[ASN][1000 genomes]
rs959660	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs959855	0.85[ASN][1000 genomes]
rs962595	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9646839	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs999890	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs999891	1.00[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
8	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
9	chr2:209139000-209155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
11	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
12	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
13	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
16	chr2:209143400-209152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:209143800-209152800	Weak transcription	Fetal Heart	heart
18	chr2:209143800-209154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:209143800-209154800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:209144000-209153600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:209144000-209154400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:209145400-209152800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:209145800-209158400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:209146000-209152800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:209146000-209152800	Weak transcription	Fetal Brain Female	brain
26	chr2:209146400-209152600	Weak transcription	Right Atrium	heart
27	chr2:209146400-209152800	Weak transcription	NHLF	lung
28	chr2:209146600-209152800	Weak transcription	K562	blood
29	chr2:209146600-209153000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:209146600-209154400	Weak transcription	Pancreas	Pancrea
31	chr2:209146600-209154400	Weak transcription	HSMMtube	muscle
32	chr2:209146600-209155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:209147000-209153200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:209147000-209153400	Weak transcription	Colonic Mucosa	Colon
35	chr2:209147000-209153400	Strong transcription	Fetal Stomach	stomach
36	chr2:209147000-209154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:209147200-209154800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:209147200-209155600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
40	chr2:209147800-209152800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:209147800-209152800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:209147800-209152800	Weak transcription	Brain Substantia Nigra	brain
43	chr2:209147800-209153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:209147800-209154600	Weak transcription	Aorta	Aorta
45	chr2:209147800-209168200	Weak transcription	Gastric	stomach
46	chr2:209148000-209153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:209148200-209152400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:209148200-209152800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:209148200-209152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:209148200-209153200	Weak transcription	Brain Inferior Temporal Lobe	brain

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