Variant report

Variant	rs2886393
Chromosome Location	chr2:32371562-32371563
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32370490..32374937-chr2:32388646..32392345,4	K562	blood:
2	chr2:32365815..32368775-chr2:32370522..32372496,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10208246	0.88[ASN][1000 genomes]
rs11124276	0.83[AFR][1000 genomes]
rs11124278	0.85[ASN][1000 genomes]
rs11678119	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11681731	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11683760	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683842	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11689817	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11694630	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12465124	0.84[ASN][1000 genomes]
rs12465351	0.84[ASN][1000 genomes]
rs12474443	0.84[ASN][1000 genomes]
rs12474598	0.82[ASN][1000 genomes]
rs12611678	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12614686	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617289	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12617290	0.86[ASN][1000 genomes]
rs12618002	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12995952	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997026	0.84[ASN][1000 genomes]
rs13007972	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13008192	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13022197	0.86[ASN][1000 genomes]
rs13427170	0.84[ASN][1000 genomes]
rs212738	0.84[ASN][1000 genomes]
rs212739	0.85[ASN][1000 genomes]
rs212745	0.82[AFR][1000 genomes]
rs2235134	0.82[AFR][1000 genomes]
rs2280973	0.93[ASN][1000 genomes]
rs2294176	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2294179	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2365558	0.84[ASN][1000 genomes]
rs34976640	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35641550	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3752916	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3752917	0.86[ASN][1000 genomes]
rs3769602	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769603	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769604	0.83[AFR][1000 genomes]
rs3851308	0.86[ASN][1000 genomes]
rs3851310	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4258846	0.82[ASN][1000 genomes]
rs4407291	0.87[ASN][1000 genomes]
rs4519572	0.87[ASN][1000 genomes]
rs4952209	0.88[ASN][1000 genomes]
rs4952247	0.83[AFR][1000 genomes]
rs4952249	0.84[ASN][1000 genomes]
rs4952250	0.86[ASN][1000 genomes]
rs4952252	0.90[ASN][1000 genomes]
rs56208031	0.88[ASN][1000 genomes]
rs6716179	0.84[ASN][1000 genomes]
rs6717209	0.84[ASN][1000 genomes]
rs6723154	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761417	0.88[ASN][1000 genomes]
rs7572964	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7573543	0.84[ASN][1000 genomes]
rs7581032	0.84[ASN][1000 genomes]
rs7581340	0.84[ASN][1000 genomes]
rs7581432	0.82[ASN][1000 genomes]
rs7588883	0.84[ASN][1000 genomes]
rs7592239	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592356	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604289	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605242	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
2	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:32331600-32390200	Weak transcription	Gastric	stomach
4	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
5	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:32342200-32372400	Weak transcription	Esophagus	oesophagus
10	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
11	chr2:32344200-32389600	Weak transcription	HMEC	breast
12	chr2:32352200-32374600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
17	chr2:32355200-32383600	Weak transcription	HSMMtube	muscle
18	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
19	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
21	chr2:32356200-32380400	Weak transcription	Colonic Mucosa	Colon
22	chr2:32356400-32383200	Weak transcription	K562	blood
23	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:32360000-32390200	Weak transcription	Ovary	ovary
25	chr2:32361000-32377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:32361000-32377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:32361200-32374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:32361200-32375000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:32361200-32375800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:32361200-32381800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:32361200-32383800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:32361200-32389600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:32361200-32389600	Weak transcription	NHEK	skin
35	chr2:32361200-32389600	Weak transcription	Osteobl	bone
36	chr2:32361400-32372800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:32361400-32389600	Weak transcription	Fetal Heart	heart
38	chr2:32361400-32389600	Weak transcription	Hela-S3	cervix
39	chr2:32361600-32371600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:32361600-32389600	Weak transcription	NH-A	brain
41	chr2:32361800-32373200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:32361800-32373600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:32361800-32375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:32362000-32372400	Strong transcription	Dnd41	blood
45	chr2:32362000-32373400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:32363200-32372200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:32363200-32372600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:32363200-32373000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:32363200-32373200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:32363200-32389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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