Variant report

Variant	rs12365489
Chromosome Location	chr11:105951060-105951061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:105950932-105951132	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105941462..105944088-chr11:105949651..105951934,2	MCF-7	breast:

Variant related genes	Relation type
KBTBD3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10895900	0.85[CHB][hapmap]
rs10895901	0.81[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10895902	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895904	0.90[CHB][hapmap]
rs11226907	1.00[CEU][hapmap]
rs11226909	1.00[CEU][hapmap]
rs11226911	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11226914	1.00[CEU][hapmap]
rs11226915	0.90[CHB][hapmap]
rs11226920	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11226922	0.80[CHB][hapmap]
rs17105049	0.85[CHB][hapmap]
rs1893174	0.90[CHB][hapmap]
rs1939798	0.90[CHB][hapmap]
rs1939799	0.90[CHB][hapmap]
rs2155340	0.85[CHB][hapmap]
rs2186731	0.85[CHB][hapmap]
rs3740869	0.80[CHB][hapmap]
rs4237618	0.86[CHB][hapmap]
rs4440991	0.90[CHB][hapmap]
rs4474407	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4754141	0.90[CHB][hapmap]
rs7108636	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs754562	0.80[CHB][hapmap]
rs7554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs766717	0.80[CHB][hapmap]
rs9651674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105953200	Weak transcription	Gastric	stomach
2	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:105949200-105952800	Weak transcription	Left Ventricle	heart
4	chr11:105949200-105956800	Weak transcription	Aorta	Aorta
5	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:105949200-105969800	Weak transcription	Lung	lung
9	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
10	chr11:105949400-105951200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:105949400-105951200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:105949400-105951400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:105949400-105953000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:105949400-105953600	Enhancers	Fetal Heart	heart
15	chr11:105949800-105951600	Enhancers	Brain Substantia Nigra	brain
16	chr11:105949800-105953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:105949800-105953000	Weak transcription	HSMMtube	muscle
18	chr11:105949800-105953200	Weak transcription	Right Ventricle	heart
19	chr11:105949800-105956800	Weak transcription	Pancreas	Pancrea
20	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
22	chr11:105950000-105951400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:105950000-105952000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:105950000-105953200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:105950000-105953200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:105950000-105953600	Genic enhancers	Primary T cells from cord blood	blood
27	chr11:105950000-105953600	Genic enhancers	HepG2	liver
28	chr11:105950200-105951200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:105950200-105951200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
30	chr11:105950200-105951400	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
31	chr11:105950200-105951800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:105950200-105951800	Genic enhancers	Hela-S3	cervix
33	chr11:105950200-105952000	Genic enhancers	Primary hematopoietic stem cells	blood
34	chr11:105950200-105952000	Genic enhancers	Liver	Liver
35	chr11:105950200-105952200	Genic enhancers	Psoas Muscle	Psoas
36	chr11:105950200-105953400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:105950200-105953400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:105950200-105953400	Strong transcription	Placenta	Placenta
39	chr11:105950200-105953600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr11:105950200-105953800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:105950200-105954000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:105950200-105956400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:105950400-105951200	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr11:105950400-105951200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:105950400-105951400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:105950400-105951600	Genic enhancers	Primary B cells from cord blood	blood
47	chr11:105950400-105951600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:105950400-105952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:105950400-105952000	Genic enhancers	Colon Smooth Muscle	Colon
50	chr11:105950400-105952000	Genic enhancers	Rectal Smooth Muscle	rectum

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