Variant report

Variant	rs1876465
Chromosome Location	chr12:64202890-64202891
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11175172	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs12228292	0.89[EUR][1000 genomes]
rs12422679	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12426316	0.96[ASN][1000 genomes]
rs17099839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2279964	0.82[CEU][hapmap]
rs2336001	0.93[ASN][1000 genomes]
rs3791156	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7967092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
3	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
5	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
7	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
8	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:64178400-64204000	Weak transcription	HMEC	breast
13	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:64181000-64204400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:64181200-64204400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:64181200-64205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:64182800-64205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:64184400-64203600	Weak transcription	K562	blood
20	chr12:64184400-64204200	Weak transcription	NHEK	skin
21	chr12:64184600-64204400	Weak transcription	Esophagus	oesophagus
22	chr12:64184600-64205800	Weak transcription	Fetal Kidney	kidney
23	chr12:64184600-64206000	Weak transcription	Psoas Muscle	Psoas
24	chr12:64184800-64203600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:64185000-64205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:64185000-64207800	Weak transcription	NH-A	brain
27	chr12:64185200-64207800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:64185600-64206600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:64186600-64203000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:64189400-64215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:64198600-64203200	Strong transcription	Primary T cells from cord blood	blood
32	chr12:64199000-64203600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:64199000-64203800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:64199200-64203000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:64199200-64203400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:64199200-64203600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:64199200-64203600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:64199200-64207000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:64199400-64203600	Strong transcription	Primary B cells from cord blood	blood
40	chr12:64199400-64203600	Strong transcription	Dnd41	blood
41	chr12:64199400-64203800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:64199400-64203800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:64199400-64206600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:64199600-64203000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:64199800-64205800	Weak transcription	NHLF	lung
46	chr12:64200000-64203600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:64200000-64205200	Weak transcription	HSMM	muscle
48	chr12:64200000-64208800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:64200200-64208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:64200400-64203800	Weak transcription	Monocytes-CD14+_RO01746	blood

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