Variant report

Variant	rs11065245
Chromosome Location	chr12:121182053-121182054
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	chr12:121180108..121181747-chr12:121181944..121183466,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431372	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431383	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849780	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849781	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065194	0.86[EUR][1000 genomes]
rs11065195	0.86[EUR][1000 genomes]
rs11065196	0.86[EUR][1000 genomes]
rs11065197	0.86[EUR][1000 genomes]
rs11065198	0.86[EUR][1000 genomes]
rs11065199	0.86[EUR][1000 genomes]
rs11065204	0.86[EUR][1000 genomes]
rs11065205	0.86[EUR][1000 genomes]
rs11065214	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065215	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065217	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065220	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065221	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065224	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065229	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065234	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065235	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065238	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065240	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065241	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065242	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065243	0.98[ASN][1000 genomes]
rs11065244	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065246	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12229164	0.86[EUR][1000 genomes]
rs12229181	0.86[EUR][1000 genomes]
rs12231101	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231499	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17848090	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071266	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2229534	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239687	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239757	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2239759	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3751166	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7302002	0.86[EUR][1000 genomes]
rs7973568	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
6	chr12:121177800-121182400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:121177800-121197800	Weak transcription	Gastric	stomach
12	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
17	chr12:121178600-121182800	Weak transcription	Esophagus	oesophagus
18	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
19	chr12:121179000-121183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121179600-121182800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
24	chr12:121180000-121183000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:121180200-121183600	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:121180200-121185400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
28	chr12:121180600-121185200	Weak transcription	HepG2	liver

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