Variant report

Variant	rs11604978
Chromosome Location	chr11:119588062-119588063
allele	A/G
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	chr11:119587850..119589350-chr11:119589562..119592404,2	MCF-7	breast:
4	chr11:119582567..119584889-chr11:119586809..119588418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10892435	0.81[YRI][hapmap]
rs10892439	0.83[AMR][1000 genomes]
rs11217416	1.00[AMR][1000 genomes]
rs6589768	1.00[MEX][hapmap]
rs7129419	1.00[MEX][hapmap]
rs7941970	0.96[AFR][1000 genomes];0.83[AMR][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:68 , 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	chr11:119579600-119589200	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:119580800-119597000	Weak transcription	Lung	lung
8	chr11:119581000-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:119581000-119591600	Weak transcription	Colonic Mucosa	Colon
10	chr11:119581200-119588400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:119581200-119590600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:119582200-119589000	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:119582800-119589200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:119583400-119589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:119583800-119588400	Weak transcription	Brain Anterior Caudate	brain
17	chr11:119583800-119589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:119584600-119591600	Weak transcription	Fetal Heart	heart
19	chr11:119584600-119591800	Weak transcription	Placenta	Placenta
20	chr11:119584800-119588400	Enhancers	HepG2	liver
21	chr11:119584800-119588800	Weak transcription	Spleen	Spleen
22	chr11:119584800-119592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:119585200-119588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:119585200-119591200	Weak transcription	Stomach Mucosa	stomach
25	chr11:119585200-119591800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:119585200-119592000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
28	chr11:119585800-119588400	Weak transcription	Fetal Thymus	thymus
29	chr11:119585800-119589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:119585800-119590400	Weak transcription	Fetal Stomach	stomach
31	chr11:119586000-119588800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:119586000-119590000	Weak transcription	HMEC	breast
33	chr11:119586200-119589400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
35	chr11:119586400-119589400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:119586400-119589600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:119586400-119590200	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:119586400-119590400	Strong transcription	NHEK	skin
39	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:119586600-119589000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:119586800-119588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:119586800-119588800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:119587000-119589200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:119587000-119590400	Enhancers	Brain Substantia Nigra	brain
45	chr11:119587200-119589600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:119587200-119590600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:119587400-119589000	Enhancers	Brain Germinal Matrix	brain
48	chr11:119587400-119589200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:119587400-119589200	Enhancers	Fetal Brain Male	brain
50	chr11:119587400-119589600	Enhancers	Brain Inferior Temporal Lobe	brain

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