Variant report

Variant	rs1052871
Chromosome Location	chr12:10758703-10758704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000060140	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10772332	0.96[EUR][1000 genomes]
rs10772333	0.96[EUR][1000 genomes]
rs10772335	0.93[EUR][1000 genomes]
rs10845182	0.96[EUR][1000 genomes]
rs2125089	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125090	0.99[EUR][1000 genomes]
rs2198965	0.92[EUR][1000 genomes]
rs2219383	0.91[EUR][1000 genomes]
rs2243823	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417908	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2682484	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3463	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3947920	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237930	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763208	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763209	0.99[EUR][1000 genomes]
rs4763210	0.91[EUR][1000 genomes]
rs4763211	0.91[EUR][1000 genomes]
rs4763562	1.00[ASN][1000 genomes]
rs4763563	1.00[ASN][1000 genomes]
rs6488312	0.91[EUR][1000 genomes]
rs6488313	0.92[EUR][1000 genomes]
rs7308433	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311796	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316237	0.91[EUR][1000 genomes]
rs7965803	0.91[EUR][1000 genomes]
rs7976279	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897879	0.82[AMR][1000 genomes]
rs897881	0.90[AMR][1000 genomes]
rs953248	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
10	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
14	chr12:10732600-10759600	Weak transcription	HMEC	breast
15	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
17	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
19	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
20	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
22	chr12:10734200-10759400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:10734200-10759400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:10734200-10759400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:10734200-10759600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
28	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:10735200-10759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:10739400-10761400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:10742000-10761200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
36	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
37	chr12:10743400-10759600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:10743400-10759600	Weak transcription	Brain Anterior Caudate	brain
39	chr12:10743400-10765400	Weak transcription	Gastric	stomach
40	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
42	chr12:10744200-10759600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:10744200-10759600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:10744200-10764000	Weak transcription	Ovary	ovary
45	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
46	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
47	chr12:10745000-10759600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:10745200-10759400	Weak transcription	Placenta	Placenta
49	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
50	chr12:10748000-10762400	Weak transcription	Hela-S3	cervix

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