Variant report

Variant	rs12790352
Chromosome Location	chr11:74154109-74154110
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74153484..74156082-chr11:74157168..74159879,2	K562	blood:
2	chr11:73979603..73981610-chr11:74153903..74155501,2	MCF-7	breast:
3	chr11:74099605..74100422-chr11:74153909..74154835,7	MCF-7	breast:
4	chr11:74099483..74099994-chr11:74153863..74154588,2	MCF-7	breast:
5	chr11:74100543..74103930-chr11:74153911..74157152,3	MCF-7	breast:
6	chr11:74153867..74156607-chr11:74157168..74160666,3	K562	blood:
7	chr11:74152449..74154476-chr11:74156182..74158216,2	MCF-7	breast:
8	chr11:74147853..74150275-chr11:74150920..74154389,3	K562	blood:
9	chr11:74108600..74111383-chr11:74152439..74157109,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264402	Chromatin interaction
ENSG00000254631	Chromatin interaction
ENSG00000165434	Chromatin interaction
ENSG00000149380	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11824535	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11826334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789112	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800641	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35422358	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3867273	0.85[ASN][1000 genomes]
rs3867275	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913182	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363632	0.85[ASN][1000 genomes]
rs66570137	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66959329	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7129575	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7943857	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv393	chr11:74135862-74181417	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74138800-74161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74148600-74154200	Weak transcription	HSMMtube	muscle
3	chr11:74149000-74154200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:74152400-74156200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:74152600-74154400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr11:74152600-74155600	Enhancers	Fetal Intestine Large	intestine
7	chr11:74153000-74154200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:74153200-74155800	Enhancers	Fetal Intestine Small	intestine
9	chr11:74153400-74154400	Enhancers	NH-A	brain
10	chr11:74153400-74154800	Enhancers	Aorta	Aorta
11	chr11:74153400-74155200	Enhancers	A549	lung
12	chr11:74153400-74155600	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:74153400-74155600	Enhancers	Stomach Mucosa	stomach
14	chr11:74153400-74155600	Enhancers	K562	blood
15	chr11:74153400-74156800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:74153600-74154400	Enhancers	Pancreas	Pancrea
17	chr11:74153600-74154600	Enhancers	Liver	Liver
18	chr11:74153600-74154600	Enhancers	Ovary	ovary
19	chr11:74153600-74154800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:74153600-74154800	Enhancers	Hela-S3	cervix
21	chr11:74153600-74154800	Enhancers	Osteobl	bone
22	chr11:74153600-74155000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:74153600-74158400	Enhancers	Fetal Muscle Leg	muscle
24	chr11:74153800-74154200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:74153800-74155000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:74154000-74154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:74154000-74154400	Enhancers	Psoas Muscle	Psoas
28	chr11:74154000-74154400	Enhancers	NHEK	skin
29	chr11:74154000-74154600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:74154000-74154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:74154000-74154600	Enhancers	Colon Smooth Muscle	Colon
32	chr11:74154000-74154600	Bivalent Enhancer	HepG2	liver
33	chr11:74154000-74154800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:74154000-74154800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:74154000-74154800	Enhancers	Fetal Thymus	thymus
36	chr11:74154000-74155000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:74154000-74155000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:74154000-74155200	Enhancers	Colonic Mucosa	Colon
39	chr11:74154000-74155800	Enhancers	HSMM	muscle

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