Variant report

Variant	rs11065522
Chromosome Location	chr12:121732107-121732108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121701635..121704379-chr12:121730216..121732499,2	MCF-7	breast:
2	chr12:121731583..121733176-chr12:121734919..121737416,2	K562	blood:
3	chr12:121731476..121733834-chr12:121779944..121781697,2	MCF-7	breast:
4	chr12:121731746..121734589-chr12:121836434..121839785,3	K562	blood:
5	chr12:121731746..121735132-chr12:121837281..121839785,4	K562	blood:
6	chr12:121730283..121732631-chr12:121741118..121743378,2	MCF-7	breast:
7	chr12:121730096..121733083-chr12:121733229..121736419,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11065527	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11065546	1.00[CEU][hapmap]
rs11065568	1.00[CEU][hapmap]
rs11065587	1.00[CEU][hapmap]
rs11065588	1.00[CEU][hapmap]
rs1169964	0.83[CHB][hapmap]
rs12303740	0.81[ASN][1000 genomes]
rs12321214	0.84[ASN][1000 genomes]
rs1617736	0.84[CHB][hapmap]
rs2942076	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 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	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:121707400-121733200	Weak transcription	HSMM	muscle
5	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
6	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
7	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
10	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:121715600-121733000	Weak transcription	NHEK	skin
14	chr12:121717000-121732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:121717600-121733000	Weak transcription	Esophagus	oesophagus
16	chr12:121717600-121733000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:121717800-121733200	Weak transcription	NH-A	brain
18	chr12:121718000-121733000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:121720200-121732200	Weak transcription	Small Intestine	intestine
20	chr12:121720200-121733200	Weak transcription	Colonic Mucosa	Colon
21	chr12:121722000-121732800	Weak transcription	K562	blood
22	chr12:121722800-121733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:121723000-121732200	Weak transcription	HUVEC	blood vessel
24	chr12:121723600-121733000	Weak transcription	Pancreas	Pancrea
25	chr12:121725600-121733000	Weak transcription	NHLF	lung
26	chr12:121726200-121733200	Weak transcription	Psoas Muscle	Psoas
27	chr12:121726400-121732200	Weak transcription	Right Ventricle	heart
28	chr12:121726400-121733000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:121726400-121733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:121726600-121732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:121726600-121732200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:121727000-121732200	Weak transcription	Stomach Mucosa	stomach
33	chr12:121727000-121732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:121727000-121732400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:121727000-121732600	Weak transcription	Fetal Brain Male	brain
36	chr12:121727000-121733000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121727000-121733000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:121727000-121733000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:121727000-121733200	Weak transcription	Thymus	Thymus
40	chr12:121727200-121732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:121727200-121733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:121727200-121733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:121727200-121733000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:121727400-121732400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:121727400-121732400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:121727400-121732400	Strong transcription	Fetal Stomach	stomach
47	chr12:121727400-121733000	Weak transcription	Osteobl	bone
48	chr12:121727600-121732200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:121727600-121732200	Weak transcription	Gastric	stomach
50	chr12:121727600-121732400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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