Variant report

Variant	rs10475
Chromosome Location	chr1:212793613-212793614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212791375-212796129	Hela-S3	cervix:	n/a	n/a
2	ZMIZ1	chr1:212793481-212793789	K562	blood:	n/a	n/a
3	POLR2A	chr1:212791248-212795288	K562	blood:	n/a	n/a
4	POLR2A	chr1:212791471-212796183	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:212793525-212796486	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:212793271-212793748	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:212793266-212793793	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:212793176-212793804	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:212792655-212793928	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:212791926-212796124	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:212791413-212796094	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:212792122-212796581	K562	blood:	n/a	n/a
13	POLR2A	chr1:212780144-212798001	IMR90	lung:	n/a	n/a
14	POLR2A	chr1:212793485-212793766	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:212792495-212793928	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:212791371-212794027	K562	blood:	n/a	n/a
17	POLR2A	chr1:212793281-212796865	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr1:212789869-212796544	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:212793229-212793903	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:212782514-212798502	A549	lung:	n/a	n/a
21	USF2	chr1:212792637-212793894	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212791964..212794930-chr1:212795751..212797636,2	MCF-7	breast:
2	chr1:212789006..212791703-chr1:212792402..212795087,2	MCF-7	breast:
3	chr1:212673598..212676078-chr1:212793067..212795166,2	K562	blood:
4	chr1:212788687..212791462-chr1:212792907..212794794,2	MCF-7	breast:
5	chr1:212792535..212794965-chr1:212796711..212799477,2	MCF-7	breast:
6	chr1:212751031..212755114-chr1:212792767..212796385,4	K562	blood:
7	chr1:212651362..212653515-chr1:212793068..212795990,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL512P	TF binding region
FAM71A	TF binding region
ENSG00000162771	Chromatin interaction
ENSG00000264590	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3122713	0.82[ASW][hapmap]
rs3123543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3125297	0.82[ASW][hapmap]
rs3795837	0.82[ASW][hapmap]
rs7533306	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9430097	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212784000-212794200	Weak transcription	HUVEC	blood vessel
2	chr1:212784200-212796800	Weak transcription	Stomach Mucosa	stomach
3	chr1:212784800-212794800	Weak transcription	NH-A	brain
4	chr1:212785000-212797000	Weak transcription	Right Atrium	heart
5	chr1:212785000-212801000	Weak transcription	Fetal Heart	heart
6	chr1:212785400-212795600	Weak transcription	A549	lung
7	chr1:212786400-212794000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:212786600-212795200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:212787000-212794000	Strong transcription	Fetal Intestine Small	intestine
10	chr1:212787000-212794400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr1:212787600-212793800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:212787600-212793800	Strong transcription	Right Ventricle	heart
13	chr1:212787600-212793800	Strong transcription	K562	blood
14	chr1:212787600-212794400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:212787600-212794400	Strong transcription	NHLF	lung
16	chr1:212787600-212795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:212788000-212794200	Strong transcription	Fetal Stomach	stomach
18	chr1:212788200-212794200	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:212788200-212794400	Strong transcription	Adipose Nuclei	Adipose
20	chr1:212788200-212794400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:212788200-212794600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:212788200-212794600	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:212788200-212794800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:212788200-212795000	Strong transcription	Liver	Liver
25	chr1:212788200-212795200	Strong transcription	Placenta	Placenta
26	chr1:212788400-212793800	Strong transcription	Brain Anterior Caudate	brain
27	chr1:212788400-212793800	Strong transcription	Gastric	stomach
28	chr1:212788400-212793800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr1:212788400-212793800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:212788400-212794200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:212788400-212794200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:212788400-212794400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:212788400-212794400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr1:212788400-212794600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:212788400-212794800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:212788400-212794800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:212788400-212795000	Weak transcription	Fetal Thymus	thymus
38	chr1:212788400-212795200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:212788400-212795200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:212788400-212795200	Strong transcription	Left Ventricle	heart
41	chr1:212788400-212795400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:212788400-212795400	Strong transcription	Aorta	Aorta
43	chr1:212788600-212793800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:212788600-212793800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:212788600-212794400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:212788600-212794400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:212788600-212794600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:212788600-212794600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:212788600-212794600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:212788600-212794600	Strong transcription	Fetal Intestine Large	intestine

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