Variant report

Variant	rs2292558
Chromosome Location	chr1:226037318-226037319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226037053-226038065	HL-60	blood:	n/a	n/a
2	POLR2A	chr1:226037146-226037930	MCF-7	breast:	n/a	n/a
3	RCOR1	chr1:226037249-226037385	K562	blood:	n/a	n/a
4	POLR2A	chr1:226036570-226038131	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:226037273-226037401	ProgFib	skin:	n/a	n/a
6	POLR2A	chr1:226036267-226037421	K562	blood:	n/a	n/a
7	POLR2A	chr1:226037034-226037588	U87	brain:	n/a	n/a
8	POLR2A	chr1:226037175-226037528	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:226037190-226037984	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:226036408-226037908	Hela-S3	cervix:	n/a	n/a
11	BCL3	chr1:226037222-226037725	A549	lung:	n/a	n/a
12	POLR2A	chr1:226036759-226037537	K562	blood:	n/a	n/a
13	POLR2A	chr1:226037180-226037330	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:226037213-226037379	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:226029446-226038446	K562	blood:	n/a	n/a
16	POLR2A	chr1:226037147-226038397	K562	blood:	n/a	n/a
17	POLR2A	chr1:226037216-226037691	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr1:226037227-226037344	A549	lung:	n/a	n/a
19	POLR2A	chr1:226030670-226038260	A549	lung:	n/a	n/a
20	BCL3	chr1:226036986-226037651	A549	lung:	n/a	n/a
21	POLR2A	chr1:226036092-226037992	K562	blood:	n/a	n/a
22	POLR2A	chr1:226037213-226037879	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:226037191-226037576	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:226037040-226037504	U87	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226036089..226038052-chr1:226109986..226111681,2	MCF-7	breast:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1051741	0.91[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2234922	0.82[ASN][1000 genomes]
rs2671264	0.85[ASN][1000 genomes]
rs2671266	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2671267	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2740174	0.91[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56108141	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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:124 , 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	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
3	chr1:226016000-226051000	Weak transcription	NH-A	brain
4	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
5	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
6	chr1:226020600-226042400	Weak transcription	HSMM	muscle
7	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
8	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:226029800-226037600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:226029800-226050600	Strong transcription	Right Ventricle	heart
11	chr1:226030000-226040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:226030200-226039000	Genic enhancers	Brain Substantia Nigra	brain
13	chr1:226030400-226046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:226030400-226052600	Weak transcription	HSMMtube	muscle
15	chr1:226030600-226039400	Strong transcription	Liver	Liver
16	chr1:226030800-226037400	Strong transcription	NHLF	lung
17	chr1:226031400-226037800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:226031800-226039600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:226032000-226037400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:226032000-226037800	Strong transcription	Aorta	Aorta
21	chr1:226032400-226039000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr1:226033200-226039800	Genic enhancers	Brain Cingulate Gyrus	brain
23	chr1:226033400-226037600	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr1:226033400-226037600	Genic enhancers	Fetal Intestine Small	intestine
25	chr1:226033600-226037400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:226033600-226037800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr1:226033600-226041600	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:226033800-226038600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:226033800-226039200	Strong transcription	HepG2	liver
31	chr1:226033800-226039600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:226033800-226040400	Weak transcription	HMEC	breast
33	chr1:226033800-226041000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr1:226034000-226037400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:226034000-226037400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:226034000-226038000	Strong transcription	Esophagus	oesophagus
38	chr1:226034000-226039200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose
40	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:226034200-226037600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:226034200-226038000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:226034200-226039600	Weak transcription	Ovary	ovary
44	chr1:226034200-226039800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:226034200-226040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:226034400-226037400	Strong transcription	Colon Smooth Muscle	Colon
48	chr1:226034600-226047600	Weak transcription	NHEK	skin
49	chr1:226034800-226037600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:226034800-226037800	Genic enhancers	Rectal Mucosa Donor 31	rectum

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