Variant report

Variant	rs2607892
Chromosome Location	chr12:10744110-10744111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10738663..10741560-chr12:10743717..10745225,2	MCF-7	breast:
2	chr12:10743385..10746001-chr12:10752818..10754982,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10845161	0.80[JPT][hapmap]
rs10845165	0.83[AFR][1000 genomes]
rs10845171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10845172	0.91[AFR][1000 genomes]
rs10845173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845175	0.81[JPT][hapmap]
rs11053860	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11053861	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053874	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11611202	0.81[JPT][hapmap]
rs12312462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12423957	0.82[JPT][hapmap]
rs1915322	0.83[AFR][1000 genomes]
rs2002157	0.81[JPT][hapmap]
rs2125093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2125096	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2417745	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2417746	0.95[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs2417748	0.83[AFR][1000 genomes]
rs2607883	0.95[JPT][hapmap]
rs2607885	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2607887	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607888	0.95[JPT][hapmap]
rs2607889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607896	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607898	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682476	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816567	0.81[JPT][hapmap]
rs3983544	0.91[AFR][1000 genomes]
rs4763552	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488306	0.85[JPT][hapmap]
rs7358656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488589	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7953221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978850	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv999821	chr12:10742119-10749949	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10725800-10753400	Weak transcription	Osteobl	bone
3	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:10726400-10759800	Weak transcription	NHLF	lung
5	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:10730600-10764800	Weak transcription	Lung	lung
8	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
9	chr12:10730800-10758400	Weak transcription	NHEK	skin
10	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
12	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
13	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
14	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
17	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
21	chr12:10732600-10759600	Weak transcription	HMEC	breast
22	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:10733400-10746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:10733400-10748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
26	chr12:10733600-10744200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:10733800-10753400	Weak transcription	Dnd41	blood
29	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
30	chr12:10734000-10747600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:10734000-10753200	Weak transcription	Liver	Liver
32	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
33	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
35	chr12:10734200-10749200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:10734200-10755200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:10734200-10757400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:10734200-10759400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:10734200-10759400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:10734200-10759400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:10734200-10759600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
44	chr12:10734400-10753600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:10734400-10754400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:10734400-10754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:10734400-10756600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:10734600-10748800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:10735200-10753200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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