Variant report

Variant	rs7074794
Chromosome Location	chr10:45406077-45406078
allele	C/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	chr10:45405709-45406095	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45404325..45406097-chr10:45412263..45414600,2	K562	blood:

Variant related genes	Relation type
TMEM72	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1325161	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1332624	0.91[CEU][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs1332626	0.91[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs17415835	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17416363	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17507375	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17507956	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58414517	0.84[EUR][1000 genomes]
rs61852546	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61853972	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61853973	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61853975	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61853976	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73277463	0.96[EUR][1000 genomes]
rs7903148	0.91[CEU][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45398600-45406800	Weak transcription	Right Ventricle	heart
2	chr10:45399200-45406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:45399200-45406400	Weak transcription	Right Atrium	heart
4	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
5	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
7	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
8	chr10:45403600-45406400	Enhancers	Fetal Kidney	kidney
9	chr10:45403800-45406400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
11	chr10:45404000-45406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:45404000-45406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:45404000-45406200	Weak transcription	Fetal Lung	lung
14	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:45404200-45406200	Weak transcription	Fetal Heart	heart
16	chr10:45404200-45406400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr10:45404400-45406200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:45404400-45407000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr10:45404600-45406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:45404600-45406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:45404600-45406200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:45404600-45406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:45404600-45406600	Weak transcription	Lung	lung
24	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:45404800-45406200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:45405000-45406200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:45405000-45406200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:45405000-45406200	Weak transcription	Psoas Muscle	Psoas
29	chr10:45405000-45406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:45405000-45406400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:45405000-45406600	Weak transcription	Colonic Mucosa	Colon
32	chr10:45405000-45406600	Weak transcription	Gastric	stomach
33	chr10:45405000-45406600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:45405000-45408000	Weak transcription	Thymus	Thymus
35	chr10:45405000-45408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:45405400-45406400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr10:45405600-45406400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr10:45405600-45407600	Enhancers	Fetal Intestine Small	intestine
39	chr10:45405800-45406600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr10:45405800-45407600	Enhancers	Fetal Intestine Large	intestine
41	chr10:45405800-45409000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr10:45406000-45406400	Enhancers	Duodenum Mucosa	Duodenum
43	chr10:45406000-45406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:45406000-45407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr10:45406000-45407200	Enhancers	Liver	Liver
46	chr10:45406000-45407200	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr10:45406000-45407400	Enhancers	Stomach Mucosa	stomach
48	chr10:45406000-45407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:45406000-45407800	Enhancers	Ovary	ovary

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