Variant report

Variant	rs2897868
Chromosome Location	chr12:45728767-45728768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10748423	0.83[EUR][1000 genomes]
rs10785570	0.85[AMR][1000 genomes]
rs10785571	0.82[AMR][1000 genomes]
rs10785572	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880774	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10880776	0.96[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12314896	0.85[EUR][1000 genomes]
rs1896025	0.81[TSI][hapmap]
rs4768609	0.81[TSI][hapmap]
rs6582545	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136295	0.87[EUR][1000 genomes]
rs7958429	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7967892	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965125	0.80[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:45693600-45730600	Weak transcription	NH-A	brain
5	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45696400-45736600	Weak transcription	HepG2	liver
7	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
8	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45700000-45743600	Weak transcription	Gastric	stomach
11	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:45707200-45740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
16	chr12:45709800-45730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
19	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:45710400-45736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:45710400-45741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:45718800-45730200	Weak transcription	K562	blood
23	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
24	chr12:45720600-45743600	Weak transcription	Lung	lung
25	chr12:45720800-45730800	Weak transcription	HSMMtube	muscle
26	chr12:45720800-45741800	Weak transcription	Small Intestine	intestine
27	chr12:45721400-45730600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:45722000-45730200	Weak transcription	Fetal Heart	heart
29	chr12:45722000-45736400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:45722000-45736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:45722200-45730000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:45722200-45730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:45722200-45730600	Weak transcription	Right Ventricle	heart
34	chr12:45722200-45730600	Weak transcription	Osteobl	bone
35	chr12:45722200-45732000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:45722200-45735400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:45722200-45735800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:45722200-45736400	Weak transcription	HUVEC	blood vessel
39	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
40	chr12:45722400-45732000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:45723400-45729800	Weak transcription	NHEK	skin
42	chr12:45723400-45740600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:45723600-45732000	Weak transcription	Psoas Muscle	Psoas
44	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:45724000-45732000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:45725000-45729800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:45725400-45729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:45725400-45729400	Strong transcription	Fetal Thymus	thymus
49	chr12:45725400-45729600	Strong transcription	A549	lung
50	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain

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