Variant report

Variant	rs60309680
Chromosome Location	chr11:93477093-93477094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93476104-93477124	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:93476263-93477297	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:93476702-93477161	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:93476599-93477372	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:93476932-93477218	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:93477024-93477527	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:93476771-93478601	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:93475425..93477478-chr11:93478372..93480082,2	MCF-7	breast:
2	chr11:93476858..93478518-chr11:93487193..93489056,2	K562	blood:
3	chr11:93475114..93477251-chr11:93501701..93505536,3	K562	blood:
4	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
5	chr11:93475019..93477218-chr11:93528354..93530806,2	K562	blood:
6	chr11:93476133..93478547-chr11:93497585..93500296,2	K562	blood:

No data

Variant related genes	Relation type
C11orf54	TF binding region
TAF1D	TF binding region
ENSG00000238437	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56688979	1.00[AMR][1000 genomes]
rs57563658	1.00[AMR][1000 genomes]
rs57963899	1.00[AMR][1000 genomes]
rs58031262	1.00[AMR][1000 genomes]
rs58563477	1.00[AMR][1000 genomes]
rs59651246	1.00[AMR][1000 genomes]
rs59661241	1.00[AMR][1000 genomes]
rs61077719	1.00[AMR][1000 genomes]
rs61152073	1.00[AMR][1000 genomes]
rs7933524	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475400-93478000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:93475400-93478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93475400-93478600	Enhancers	Stomach Mucosa	stomach
5	chr11:93475400-93490800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:93475400-93490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:93475600-93478000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:93475600-93478000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:93475600-93490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
11	chr11:93475800-93477200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:93475800-93478200	Enhancers	Fetal Heart	heart
13	chr11:93475800-93488400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:93475800-93488400	Weak transcription	Aorta	Aorta
15	chr11:93476000-93477200	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:93476000-93477200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr11:93476000-93477400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:93476000-93477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:93476000-93477800	Weak transcription	Psoas Muscle	Psoas
20	chr11:93476000-93478000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:93476000-93478000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:93476000-93478000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:93476000-93478000	Weak transcription	Adipose Nuclei	Adipose
24	chr11:93476000-93478000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:93476000-93478000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:93476000-93478200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:93476000-93478200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:93476000-93481800	Weak transcription	Thymus	Thymus
29	chr11:93476000-93483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:93476000-93486600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:93476000-93486800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:93476000-93488400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:93476000-93488400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:93476000-93488400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:93476000-93488400	Weak transcription	HSMMtube	muscle
36	chr11:93476000-93490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:93476000-93491400	Weak transcription	Osteobl	bone
38	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
39	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:93476200-93477200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:93476200-93477200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:93476200-93477200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:93476200-93477200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr11:93476200-93477200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:93476200-93477200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:93476200-93477200	Genic enhancers	Liver	Liver
49	chr11:93476200-93477200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:93476200-93477200	Genic enhancers	Fetal Intestine Large	intestine

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