Variant report

Variant	rs7976279
Chromosome Location	chr12:10759611-10759612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10753486..10755683-chr12:10758710..10760560,2	MCF-7	breast:
2	chr12:10758501..10762466-chr12:10825549..10828463,4	MCF-7	breast:
3	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
4	chr12:10752498..10759716-chr12:10759735..10767266,16	K562	blood:

Variant related genes	Relation type
ENSG00000111196	Chromatin interaction
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1026443	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1026445	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs1026446	1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1052871	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10772333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10772335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10845182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011295	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2125089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2198965	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2219383	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2243823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3463	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs3947920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4763210	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4763211	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4763562	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4763563	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488312	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6488313	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7308433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316237	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7965803	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953248	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[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	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
2	nsv516351	chr12:10759489-10764045	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:10726400-10759800	Weak transcription	NHLF	lung
4	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:10730600-10764800	Weak transcription	Lung	lung
6	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
7	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
11	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
13	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
15	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
17	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:10739400-10761400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:10742000-10761200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
24	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
25	chr12:10743400-10765400	Weak transcription	Gastric	stomach
26	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
28	chr12:10744200-10764000	Weak transcription	Ovary	ovary
29	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
30	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
31	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
32	chr12:10748000-10762400	Weak transcription	Hela-S3	cervix
33	chr12:10748200-10760000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:10748400-10764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:10748600-10759800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:10749400-10764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:10750200-10761400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:10751800-10764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:10752000-10760400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:10752000-10762600	Weak transcription	HepG2	liver
41	chr12:10752200-10764800	Weak transcription	Colonic Mucosa	Colon
42	chr12:10752400-10764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:10753200-10761400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:10753200-10762800	Strong transcription	Primary B cells from cord blood	blood
45	chr12:10753400-10762600	Strong transcription	Dnd41	blood
46	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:10754000-10764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:10754200-10761000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:10755000-10761400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:10755000-10763600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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