Variant report

Variant	rs13229745
Chromosome Location	chr7:116812974-116812975
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	chr7:116812876-116813149	K562	blood:	n/a	n/a
2	MAFK	chr7:116812700-116812985	HepG2	liver:	n/a	chr7:116812836-116812851 chr7:116812836-116812847 chr7:116812836-116812847

No.	Distal block	Cell Line	Cell type
1	chr7:116812237..116814863-chr7:116821919..116824062,2	K562	blood:
2	chr7:116810950..116813600-chr7:116821490..116824139,2	MCF-7	breast:
3	chr7:116811833..116813341-chr7:116814870..116817383,2	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ENSG00000004866	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10487359	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13227862	0.94[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs13246825	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs34656305	0.86[AMR][1000 genomes]
rs55912105	0.87[EUR][1000 genomes]
rs60877331	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6976661	0.86[CEU][hapmap]
rs71564582	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73211938	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73211939	0.88[EUR][1000 genomes]
rs73211943	0.85[EUR][1000 genomes]
rs7806551	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:116795600-116814600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
9	chr7:116798000-116829800	Weak transcription	Gastric	stomach
10	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:116798200-116813200	Weak transcription	Aorta	Aorta
12	chr7:116798200-116866600	Weak transcription	HMEC	breast
13	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:116799200-116813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:116802400-116816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:116805000-116813400	Weak transcription	Esophagus	oesophagus
19	chr7:116805200-116813400	Weak transcription	NHLF	lung
20	chr7:116805200-116816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:116805200-116830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
23	chr7:116805400-116826200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:116806600-116820600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:116808400-116815000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:116809400-116814800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:116809800-116829600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:116810200-116829400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:116810200-116830200	Weak transcription	Spleen	Spleen
32	chr7:116810200-116832400	Weak transcription	A549	lung
33	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:116810400-116813000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:116810400-116813400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:116810400-116815000	Weak transcription	Small Intestine	intestine
37	chr7:116810400-116826200	Weak transcription	NH-A	brain
38	chr7:116810800-116813400	Weak transcription	Fetal Kidney	kidney
39	chr7:116811000-116813000	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:116811000-116813600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:116811000-116813800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:116811000-116813800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:116811000-116814000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:116811000-116814200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:116811000-116815600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:116811000-116817400	Strong transcription	Liver	Liver
47	chr7:116811000-116817600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:116811000-116817600	Strong transcription	GM12878-XiMat	blood
49	chr7:116811200-116813000	Strong transcription	Fetal Brain Female	brain
50	chr7:116811200-116813600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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