Variant report

Variant	rs74150526
Chromosome Location	chr1:226036572-226036573
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	MTA3	chr1:226035375-226036671	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:226036323-226036716	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:226036570-226038131	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:226036267-226037421	K562	blood:	n/a	n/a
5	MAZ	chr1:226035780-226036577	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:226036227-226036623	HepG2	liver:	n/a	n/a
7	MAZ	chr1:226036056-226036832	IMR90	lung:	n/a	n/a
8	EGR1	chr1:226036242-226036654	K562	blood:	n/a	chr1:226036448-226036461 chr1:226036445-226036459 chr1:226036449-226036460 chr1:226036447-226036461 chr1:226036516-226036526 chr1:226036512-226036525 chr1:226036449-226036460 chr1:226036447-226036462 chr1:226036449-226036458 chr1:226036395-226036409
9	POLR2A	chr1:226036408-226037908	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:226029446-226038446	K562	blood:	n/a	n/a
11	EGR1	chr1:226036276-226036608	K562	blood:	n/a	chr1:226036448-226036461 chr1:226036445-226036459 chr1:226036449-226036460 chr1:226036447-226036461 chr1:226036516-226036526 chr1:226036512-226036525 chr1:226036449-226036460 chr1:226036447-226036462 chr1:226036449-226036458 chr1:226036395-226036409
12	POLR2A	chr1:226036274-226036629	K562	blood:	n/a	n/a
13	POLR2A	chr1:226036444-226036575	A549	lung:	n/a	n/a
14	POLR2A	chr1:226030670-226038260	A549	lung:	n/a	n/a
15	POLR2A	chr1:226036092-226037992	K562	blood:	n/a	n/a
16	POLR2A	chr1:226036340-226036675	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226036089..226038052-chr1:226109986..226111681,2	MCF-7	breast:
2	chr1:226034669..226036597-chr1:226045740..226048084,2	K562	blood:

Variant related genes	Relation type
ENSG00000242861	TF binding region
TMEM63A	TF binding region
ENSG00000196187	Chromatin interaction
ENSG00000143811	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10915883	0.84[AFR][1000 genomes]
rs10915886	0.86[AFR][1000 genomes]
rs12070110	0.86[AFR][1000 genomes]
rs12070816	0.86[AFR][1000 genomes]
rs12071413	0.86[AFR][1000 genomes]
rs12075664	0.83[AFR][1000 genomes]
rs12077174	0.84[AFR][1000 genomes]
rs12077562	0.86[AFR][1000 genomes]
rs12077565	0.86[AFR][1000 genomes]
rs12083928	0.86[AFR][1000 genomes]
rs12084714	0.86[AFR][1000 genomes]
rs12088057	0.82[AFR][1000 genomes]
rs12091106	0.86[AFR][1000 genomes]
rs55706532	0.83[AFR][1000 genomes]
rs58852301	0.86[AFR][1000 genomes]
rs61304305	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
4	chr1:226016000-226051000	Weak transcription	NH-A	brain
5	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
6	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
7	chr1:226020600-226042400	Weak transcription	HSMM	muscle
8	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
9	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:226029800-226037600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:226029800-226050600	Strong transcription	Right Ventricle	heart
12	chr1:226030000-226040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:226030200-226039000	Genic enhancers	Brain Substantia Nigra	brain
14	chr1:226030400-226046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:226030400-226052600	Weak transcription	HSMMtube	muscle
16	chr1:226030600-226039400	Strong transcription	Liver	Liver
17	chr1:226030800-226037000	Weak transcription	Right Atrium	heart
18	chr1:226030800-226037400	Strong transcription	NHLF	lung
19	chr1:226031200-226037200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:226031400-226037800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:226031800-226036600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:226031800-226039600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:226032000-226037400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:226032000-226037800	Strong transcription	Aorta	Aorta
25	chr1:226032200-226036800	Strong transcription	Brain Germinal Matrix	brain
26	chr1:226032400-226036600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:226032400-226039000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr1:226033200-226036600	Genic enhancers	Pancreas	Pancrea
29	chr1:226033200-226037200	Genic enhancers	Brain Anterior Caudate	brain
30	chr1:226033200-226039800	Genic enhancers	Brain Cingulate Gyrus	brain
31	chr1:226033400-226037600	Genic enhancers	Duodenum Mucosa	Duodenum
32	chr1:226033400-226037600	Genic enhancers	Fetal Intestine Small	intestine
33	chr1:226033600-226037400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:226033600-226037800	Strong transcription	Rectal Smooth Muscle	rectum
35	chr1:226033600-226041600	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:226033800-226038600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:226033800-226039200	Strong transcription	HepG2	liver
39	chr1:226033800-226039600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:226033800-226040400	Weak transcription	HMEC	breast
41	chr1:226033800-226041000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr1:226034000-226036600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:226034000-226036800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:226034000-226037200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:226034000-226037400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:226034000-226037400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:226034000-226038000	Strong transcription	Esophagus	oesophagus
49	chr1:226034000-226039200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose

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