Variant report

Variant	rs12996943
Chromosome Location	chr2:32373645-32373646
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	chr2:32372239..32374198-chr2:32394451..32396644,2	K562	blood:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11691939	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13006495	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13013695	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs177082	0.82[EUR][1000 genomes]
rs212682	0.84[EUR][1000 genomes]
rs212684	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212689	0.82[EUR][1000 genomes]
rs212690	0.82[EUR][1000 genomes]
rs212691	0.82[EUR][1000 genomes]
rs212696	0.82[EUR][1000 genomes]
rs212742	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs212747	0.81[EUR][1000 genomes]
rs212751	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212754	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212761	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2294178	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34197800	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35978916	0.83[EUR][1000 genomes]
rs375050	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3769605	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs410469	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4530415	0.82[ASN][1000 genomes]
rs462878	0.82[EUR][1000 genomes]
rs4952207	0.85[ASN][1000 genomes]
rs56322034	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6543648	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756085	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7562653	0.80[EUR][1000 genomes]
rs7574000	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805831	0.81[EUR][1000 genomes]
rs9789593	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:112 , 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	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
9	chr2:32344200-32389600	Weak transcription	HMEC	breast
10	chr2:32352200-32374600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
15	chr2:32355200-32383600	Weak transcription	HSMMtube	muscle
16	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
17	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
19	chr2:32356200-32380400	Weak transcription	Colonic Mucosa	Colon
20	chr2:32356400-32383200	Weak transcription	K562	blood
21	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:32360000-32390200	Weak transcription	Ovary	ovary
23	chr2:32361000-32377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:32361000-32377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:32361200-32374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:32361200-32375000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:32361200-32375800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:32361200-32381800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:32361200-32383800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:32361200-32389600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:32361200-32389600	Weak transcription	NHEK	skin
33	chr2:32361200-32389600	Weak transcription	Osteobl	bone
34	chr2:32361400-32389600	Weak transcription	Fetal Heart	heart
35	chr2:32361400-32389600	Weak transcription	Hela-S3	cervix
36	chr2:32361600-32389600	Weak transcription	NH-A	brain
37	chr2:32361800-32375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:32363200-32389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:32363400-32376600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:32363400-32386200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:32363400-32389800	Weak transcription	Fetal Kidney	kidney
42	chr2:32363600-32379600	Weak transcription	Fetal Brain Male	brain
43	chr2:32363600-32389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:32364200-32378800	Weak transcription	HSMM	muscle
45	chr2:32365000-32389800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:32366600-32377600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:32366600-32378000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:32367200-32389800	Weak transcription	Fetal Lung	lung
49	chr2:32367400-32374600	Weak transcription	Primary B cells from cord blood	blood
50	chr2:32367400-32374800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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