Variant report

Variant	rs11239277
Chromosome Location	chr10:45404837-45404838
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	ZNF143	chr10:45404729-45404985	H1-hESC	embryonic stem cell:	n/a	chr10:45404893-45404903

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45404325..45406097-chr10:45412263..45414600,2	K562	blood:
2	chr10:45402937..45405855-chr10:45407880..45411438,3	K562	blood:

Variant related genes	Relation type
TMEM72	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11239221	1.00[AMR][1000 genomes]
rs11239235	1.00[AMR][1000 genomes]
rs11239279	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12360023	1.00[AMR][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:44 , 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	chr10:45400200-45405400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
6	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
7	chr10:45402000-45405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
9	chr10:45403000-45405000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:45403200-45405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:45403200-45405000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
13	chr10:45403400-45405000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:45403400-45405000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:45403400-45405000	Enhancers	Psoas Muscle	Psoas
16	chr10:45403400-45405400	Enhancers	Fetal Muscle Trunk	muscle
17	chr10:45403600-45406400	Enhancers	Fetal Kidney	kidney
18	chr10:45403800-45406400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
20	chr10:45404000-45406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:45404000-45406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:45404000-45406200	Weak transcription	Fetal Lung	lung
23	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:45404200-45405000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr10:45404200-45406000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:45404200-45406200	Weak transcription	Fetal Heart	heart
27	chr10:45404200-45406400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr10:45404400-45405000	Enhancers	Colonic Mucosa	Colon
29	chr10:45404400-45405000	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:45404400-45405000	Enhancers	Gastric	stomach
31	chr10:45404400-45405000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:45404400-45405000	Enhancers	HSMMtube	muscle
33	chr10:45404400-45405200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr10:45404400-45406200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:45404400-45407000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:45404600-45405000	Enhancers	Thymus	Thymus
37	chr10:45404600-45406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:45404600-45406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:45404600-45406200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:45404600-45406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:45404600-45406600	Weak transcription	Lung	lung
42	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:45404800-45406000	Weak transcription	Stomach Mucosa	stomach
44	chr10:45404800-45406200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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