Variant report

Variant	rs12416901
Chromosome Location	chr11:119587095-119587096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119586554..119590249-chr11:119604143..119607234,3	K562	blood:
2	chr11:119586160..119588089-chr11:119597463..119599607,2	MCF-7	breast:
3	chr11:119582567..119584889-chr11:119586809..119588418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10790338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10892440	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10892442	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11217425	0.81[AFR][1000 genomes]
rs11600071	0.88[EUR][1000 genomes]
rs4245203	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4245204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4245205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4409845	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4533047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7104655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925057	0.84[ASN][1000 genomes]
rs7927510	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7931978	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
4	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:119575200-119591600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:119576800-119587200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:119579600-119589200	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:119580800-119597000	Weak transcription	Lung	lung
9	chr11:119581000-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:119581000-119591600	Weak transcription	Colonic Mucosa	Colon
11	chr11:119581200-119588400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:119581200-119590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:119582200-119589000	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:119582400-119587800	Enhancers	Fetal Intestine Large	intestine
16	chr11:119582800-119587600	Weak transcription	Fetal Brain Female	brain
17	chr11:119582800-119589200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:119583400-119589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:119583600-119588000	Weak transcription	Fetal Kidney	kidney
20	chr11:119583800-119587400	Weak transcription	Fetal Brain Male	brain
21	chr11:119583800-119588000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:119583800-119588400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:119583800-119589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:119584000-119587600	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:119584200-119587200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:119584600-119587200	Weak transcription	Fetal Lung	lung
27	chr11:119584600-119587600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:119584600-119591600	Weak transcription	Fetal Heart	heart
29	chr11:119584600-119591800	Weak transcription	Placenta	Placenta
30	chr11:119584800-119587200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:119584800-119588400	Enhancers	HepG2	liver
32	chr11:119584800-119588800	Weak transcription	Spleen	Spleen
33	chr11:119584800-119592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:119585200-119588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:119585200-119591200	Weak transcription	Stomach Mucosa	stomach
36	chr11:119585200-119591800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:119585200-119592000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
39	chr11:119585400-119587800	Weak transcription	Gastric	stomach
40	chr11:119585400-119587800	Weak transcription	Right Ventricle	heart
41	chr11:119585800-119588400	Weak transcription	Fetal Thymus	thymus
42	chr11:119585800-119589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:119585800-119590400	Weak transcription	Fetal Stomach	stomach
44	chr11:119586000-119587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:119586000-119588800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:119586000-119590000	Weak transcription	HMEC	breast
47	chr11:119586200-119587800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:119586200-119589400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
50	chr11:119586400-119587400	Enhancers	Ovary	ovary

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