Variant report

Variant	rs11068007
Chromosome Location	chr12:116804720-116804721
allele	C/T
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	EP300	chr12:116803814-116805285	SK-N-SH	brain:	n/a	n/a
2	MAX	chr12:116803921-116804808	A549	lung:	n/a	n/a
3	TCF12	chr12:116803918-116804771	A549	lung:	n/a	n/a
4	MXI1	chr12:116803969-116804999	SK-N-SH	brain:	n/a	n/a
5	SP1	chr12:116803880-116804752	A549	lung:	n/a	chr12:116804280-116804289 chr12:116804280-116804290 chr12:116804280-116804294 chr12:116804281-116804290 chr12:116804279-116804291 chr12:116804279-116804291

No.	Distal block	Cell Line	Cell type
1	chr12:116716333..116718109-chr12:116803555..116806068,2	K562	blood:
2	chr12:116792764..116795736-chr12:116804273..116805979,2	K562	blood:
3	chr12:116713535..116717387-chr12:116803104..116806082,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258346	TF binding region
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10850618	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10850619	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11068003	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068006	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068009	0.85[ASN][1000 genomes]
rs12228903	0.81[CHB][hapmap]
rs12230486	0.90[CEU][hapmap];0.82[CHB][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12371905	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57615867	0.86[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116797600-116807800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:116797800-116806200	Weak transcription	Liver	Liver
3	chr12:116798000-116807800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:116799400-116814800	Weak transcription	Spleen	Spleen
5	chr12:116799600-116806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:116799800-116806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:116800800-116820600	Weak transcription	Thymus	Thymus
8	chr12:116802200-116812000	Enhancers	Placenta	Placenta
9	chr12:116803000-116805000	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:116803000-116805200	Enhancers	Small Intestine	intestine
11	chr12:116803400-116805200	Enhancers	Stomach Mucosa	stomach
12	chr12:116803800-116804800	Enhancers	Fetal Intestine Small	intestine
13	chr12:116803800-116805000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr12:116803800-116805200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr12:116803800-116805400	Enhancers	Pancreas	Pancrea
16	chr12:116804000-116804800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:116804000-116805000	Enhancers	Dnd41	blood
18	chr12:116804000-116805200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:116804000-116805200	Enhancers	Brain Anterior Caudate	brain
20	chr12:116804000-116805200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:116804000-116805800	Enhancers	Lung	lung
22	chr12:116804200-116805000	Enhancers	Fetal Muscle Leg	muscle
23	chr12:116804200-116805200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:116804200-116805200	Enhancers	Aorta	Aorta
25	chr12:116804200-116806200	Weak transcription	Fetal Intestine Large	intestine
26	chr12:116804200-116806200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:116804200-116813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:116804400-116804800	Weak transcription	Gastric	stomach
29	chr12:116804400-116805200	Enhancers	Fetal Thymus	thymus
30	chr12:116804400-116806000	Enhancers	A549	lung
31	chr12:116804400-116806200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:116804400-116806200	Weak transcription	HepG2	liver
33	chr12:116804400-116807800	Weak transcription	K562	blood
34	chr12:116804400-116808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:116804400-116813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:116804400-116813600	Weak transcription	HUVEC	blood vessel
37	chr12:116804400-116820200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:116804600-116806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:116804600-116807800	Weak transcription	Fetal Muscle Trunk	muscle

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