Variant report

Variant	rs11053877
Chromosome Location	chr12:10754656-10754657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10753120-10754858	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10743385..10746001-chr12:10752818..10754982,2	K562	blood:
2	chr12:10753486..10755683-chr12:10758710..10760560,2	MCF-7	breast:
3	chr12:10753471..10755289-chr12:10762745..10764723,2	MCF-7	breast:
4	chr12:10752498..10759716-chr12:10759735..10767266,16	K562	blood:
5	chr12:10750720..10754463-chr12:10754546..10757493,4	K562	blood:

No data

Variant related genes	Relation type
KLRAP1	TF binding region
ENSG00000256667	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10083164	0.83[JPT][hapmap]
rs1026442	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431297	0.82[JPT][hapmap]
rs1054396	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1073305	0.82[JPT][hapmap]
rs10743911	1.00[JPT][hapmap]
rs10772334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10772340	0.82[JPT][hapmap]
rs10772343	0.81[JPT][hapmap]
rs10772347	0.82[JPT][hapmap]
rs10845180	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10845181	0.82[JPT][hapmap]
rs10845183	0.91[ASN][1000 genomes]
rs10845185	1.00[JPT][hapmap]
rs10845192	0.82[JPT][hapmap]
rs10845194	0.81[JPT][hapmap]
rs10845195	0.82[JPT][hapmap]
rs10845197	0.80[JPT][hapmap]
rs10845198	0.82[JPT][hapmap]
rs11053880	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11053881	1.00[JPT][hapmap]
rs11053882	1.00[JPT][hapmap]
rs12306757	1.00[JPT][hapmap]
rs12306815	1.00[JPT][hapmap]
rs12811247	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1870194	1.00[JPT][hapmap]
rs2125091	0.92[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2219382	1.00[JPT][hapmap]
rs2290718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2305853	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2418087	0.82[JPT][hapmap]
rs2418088	0.82[JPT][hapmap]
rs2900513	0.82[JPT][hapmap]
rs3759264	1.00[JPT][hapmap]
rs3759265	0.93[JPT][hapmap]
rs3782674	1.00[JPT][hapmap]
rs4763565	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6488316	0.82[JPT][hapmap]
rs7312261	1.00[JPT][hapmap]
rs7313620	0.81[JPT][hapmap]
rs7350557	0.82[JPT][hapmap]
rs7350597	0.82[JPT][hapmap]
rs7968284	0.82[JPT][hapmap]
rs7968819	0.85[ASN][1000 genomes]
rs7971142	0.82[JPT][hapmap]
rs897880	1.00[JPT][hapmap]
rs897882	1.00[JPT][hapmap]
rs9988929	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv973995	chr12:10754447-10758396	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:10730600-10764800	Weak transcription	Lung	lung
7	chr12:10730800-10758400	Weak transcription	NHEK	skin
8	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
10	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
13	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
17	chr12:10732600-10759600	Weak transcription	HMEC	breast
18	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
20	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
22	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
23	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
25	chr12:10734200-10755200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:10734200-10757400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:10734200-10759400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:10734200-10759400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:10734200-10759400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:10734200-10759600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
33	chr12:10734400-10756600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:10735200-10759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:10736400-10758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:10736600-10756600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
41	chr12:10739400-10761400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:10741600-10756600	Weak transcription	Brain Substantia Nigra	brain
43	chr12:10742000-10761200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:10742200-10755400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:10742600-10757200	Weak transcription	NH-A	brain
46	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
47	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
48	chr12:10743400-10759600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:10743400-10759600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:10743400-10765400	Weak transcription	Gastric	stomach

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