Variant report

Variant	rs6960765
Chromosome Location	chr7:129522799-129522800
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	MXI1	chr7:129521458-129523542	SK-N-SH	brain:	n/a	n/a
2	EP300	chr7:129522147-129523000	SK-N-SH	brain:	n/a	chr7:129522529-129522536
3	POLR2A	chr7:129521450-129522824	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr7:129522194-129522896	SK-N-SH	brain:	n/a	n/a
5	JUND	chr7:129522169-129522878	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr7:129522303-129522814	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr7:129522130-129522857	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:129521535-129522883	SK-N-SH	brain:	n/a	chr7:129522727-129522738
9	GATA3	chr7:129521494-129522943	SK-N-SH	brain:	n/a	chr7:129522727-129522738
10	TCF12	chr7:129522111-129522910	SK-N-SH	brain:	n/a	chr7:129522333-129522340
11	FOSL2	chr7:129522091-129522866	SK-N-SH	brain:	n/a	chr7:129522138-129522150

Variant related genes	Relation type
UBE2H	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57085267	1.00[AMR][1000 genomes]
rs57351931	1.00[AMR][1000 genomes]
rs57534840	1.00[AMR][1000 genomes]
rs58432106	1.00[AMR][1000 genomes]
rs59326616	1.00[AMR][1000 genomes]
rs60013811	1.00[AMR][1000 genomes]
rs61192856	1.00[AMR][1000 genomes]
rs73469778	1.00[AMR][1000 genomes]
rs73469787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469788	1.00[AMR][1000 genomes]
rs73469790	1.00[AMR][1000 genomes]
rs73469802	1.00[AMR][1000 genomes]
rs73471913	1.00[AMR][1000 genomes]
rs73471916	1.00[AMR][1000 genomes]
rs73471922	1.00[AMR][1000 genomes]
rs73471986	1.00[AMR][1000 genomes]
rs73471988	1.00[AMR][1000 genomes]
rs73471991	1.00[AMR][1000 genomes]
rs73471994	1.00[AMR][1000 genomes]
rs73471997	1.00[AMR][1000 genomes]
rs73472001	1.00[AMR][1000 genomes]
rs7808364	1.00[AMR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129503200-129529000	Weak transcription	Gastric	stomach
5	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
9	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
10	chr7:129510200-129524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
12	chr7:129511200-129529000	Weak transcription	Brain Germinal Matrix	brain
13	chr7:129511200-129529600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:129512000-129524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:129512000-129529600	Weak transcription	Fetal Stomach	stomach
16	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:129513800-129529600	Weak transcription	Fetal Intestine Small	intestine
18	chr7:129516000-129529400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:129516200-129525400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:129516200-129526000	Weak transcription	NHLF	lung
21	chr7:129516200-129526200	Weak transcription	Ovary	ovary
22	chr7:129516200-129529000	Weak transcription	Aorta	Aorta
23	chr7:129516200-129529000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
25	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
26	chr7:129516400-129528000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:129516600-129528800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:129517200-129529200	Weak transcription	Fetal Lung	lung
29	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:129518000-129529000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:129518000-129537200	Weak transcription	Brain Angular Gyrus	brain
32	chr7:129518000-129537200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:129518200-129525800	Weak transcription	A549	lung
35	chr7:129518200-129526000	Weak transcription	Adipose Nuclei	Adipose
36	chr7:129518200-129526000	Weak transcription	NHEK	skin
37	chr7:129518200-129526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:129518200-129526200	Weak transcription	HMEC	breast
39	chr7:129518200-129526200	Weak transcription	HUVEC	blood vessel
40	chr7:129518200-129529000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:129518200-129529000	Weak transcription	Right Ventricle	heart
42	chr7:129518200-129529200	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:129518200-129542600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:129518400-129524600	Weak transcription	Liver	Liver
47	chr7:129518400-129526200	Weak transcription	Pancreas	Pancrea
48	chr7:129518400-129526400	Weak transcription	Left Ventricle	heart
49	chr7:129518400-129529000	Weak transcription	Lung	lung
50	chr7:129518400-129529000	Weak transcription	Right Atrium	heart

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