Variant report

Variant	rs11065228
Chromosome Location	chr12:121162771-121162772
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121162735-121162989	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:121162579-121164122	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:121162269-121163936	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:121162574-121162908	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:121162080-121163810	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
2	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
3	chr12:121136675..121138856-chr12:121162469..121164078,2	K562	blood:
4	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
5	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
6	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

No data

Variant related genes	Relation type
ACADS	TF binding region
ENSG00000256569	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000167272	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1055059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065210	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	1.00[ASN][1000 genomes]
rs11065258	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[ASN][1000 genomes]
rs11065281	0.83[AMR][1000 genomes]
rs11065285	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151854	1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[ASN][1000 genomes]
rs1151865	1.00[ASN][1000 genomes]
rs12366451	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs497457	1.00[ASN][1000 genomes]
rs498255	1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[ASN][1000 genomes]
rs530162	1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[ASN][1000 genomes]
rs582678	1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs59818945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627211	1.00[ASN][1000 genomes]
rs639343	1.00[ASN][1000 genomes]
rs645661	1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	1.00[ASN][1000 genomes]
rs648262	1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[ASN][1000 genomes]
rs708784	1.00[ASN][1000 genomes]
rs708788	1.00[ASN][1000 genomes]
rs73409953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.83[AMR][1000 genomes];1.00[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	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
10	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
11	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
12	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:121159000-121162800	Strong transcription	HSMM	muscle
14	chr12:121159000-121162800	Strong transcription	NHEK	skin
15	chr12:121159200-121162800	Strong transcription	Osteobl	bone
16	chr12:121159600-121162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121160200-121162800	Weak transcription	Pancreas	Pancrea
18	chr12:121160200-121163600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:121160400-121162800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:121160600-121162800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:121160600-121163000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:121161000-121162800	Weak transcription	HepG2	liver
23	chr12:121161000-121163000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:121161000-121163000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:121161000-121163000	Weak transcription	Colonic Mucosa	Colon
26	chr12:121161000-121163200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:121161200-121162800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:121161200-121162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:121161200-121162800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:121161200-121162800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:121161200-121162800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:121161200-121162800	Weak transcription	Aorta	Aorta
33	chr12:121161200-121162800	Weak transcription	Liver	Liver
34	chr12:121161200-121162800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:121161200-121162800	Weak transcription	Fetal Kidney	kidney
36	chr12:121161200-121162800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:121161200-121162800	Weak transcription	HUVEC	blood vessel
38	chr12:121161200-121163000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:121161200-121163000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:121161200-121163000	Weak transcription	Right Ventricle	heart
41	chr12:121161200-121163000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:121161200-121163000	Weak transcription	GM12878-XiMat	blood
43	chr12:121161200-121163000	Weak transcription	HMEC	breast
44	chr12:121161200-121163200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:121161200-121163200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:121161200-121163200	Weak transcription	Esophagus	oesophagus
47	chr12:121161200-121163200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:121161400-121163000	Weak transcription	Primary B cells from cord blood	blood
49	chr12:121161600-121162800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:121161600-121162800	Weak transcription	Brain Germinal Matrix	brain

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