Variant report

Variant	rs7513707
Chromosome Location	chr1:114445880-114445881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:114445852-114449210	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114445859..114448805-chr17:42295421..42298283,3	MCF-7	breast:
2	chr1:114361850..114364464-chr1:114444259..114447022,2	MCF-7	breast:
3	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
4	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
5	chr1:114445068..114448942-chr1:115050232..115055017,4	MCF-7	breast:
6	chr1:114445771..114447458-chr9:132251917..132254040,2	MCF-7	breast:
7	chr1:114352306..114358140-chr1:114445806..114450844,18	MCF-7	breast:
8	chr1:114300422..114303875-chr1:114445198..114448512,7	MCF-7	breast:
9	chr1:114353620..114357151-chr1:114445438..114449458,6	K562	blood:

No data

Variant related genes	Relation type
DCLRE1B	TF binding region
AP4B1	TF binding region
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000134242	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000204054	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000108312	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11102694	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11102701	0.91[EUR][1000 genomes]
rs11102702	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11552449	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046289	0.84[AMR][1000 genomes]
rs2358994	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358995	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3761936	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv819786	chr1:114444112-114446238	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	12 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	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
3	chr1:114434800-114446200	Weak transcription	Fetal Heart	heart
4	chr1:114435600-114446200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:114435600-114446400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:114436000-114446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:114436200-114446600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:114436200-114446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:114436800-114446400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:114437600-114446400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:114439200-114446400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:114440800-114446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:114441000-114446200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:114441000-114446600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:114441200-114446400	Weak transcription	Fetal Brain Male	brain
16	chr1:114441200-114446400	Weak transcription	A549	lung
17	chr1:114441400-114446000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:114441800-114446000	Weak transcription	HMEC	breast
19	chr1:114442000-114446000	Genic enhancers	Fetal Intestine Small	intestine
20	chr1:114442200-114446000	Strong transcription	Fetal Lung	lung
21	chr1:114442200-114446400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:114443000-114446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:114443000-114446200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:114443000-114446200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:114443000-114446200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:114443000-114446200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:114443000-114446200	Weak transcription	Right Ventricle	heart
28	chr1:114443000-114446400	Weak transcription	HSMMtube	muscle
29	chr1:114443000-114446600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:114443000-114446600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:114443000-114446600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:114443000-114446600	Weak transcription	Lung	lung
33	chr1:114443000-114446600	Weak transcription	Pancreas	Pancrea
34	chr1:114443000-114446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:114443000-114446800	Weak transcription	Ovary	ovary
36	chr1:114443200-114446200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:114443400-114446200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:114443400-114446200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:114443400-114446400	Enhancers	Fetal Intestine Large	intestine
40	chr1:114443400-114446600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:114443800-114446200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:114443800-114446600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:114444000-114446400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:114444000-114446600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:114444200-114446000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:114444200-114446200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:114444200-114446600	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr1:114444400-114446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:114444400-114446600	Weak transcription	Placenta	Placenta
50	chr1:114444600-114446000	Genic enhancers	Primary T cells from cord blood	blood

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