Variant report

Variant	rs12753531
Chromosome Location	chr1:226075608-226075609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
2	chr1:226074111..226075714-chr1:226076686..226078663,2	MCF-7	breast:
3	chr1:226068217..226073030-chr1:226073542..226076494,4	K562	blood:
4	chr1:226073428..226075918-chr1:226159575..226161542,2	K562	blood:
5	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
6	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
7	chr1:226068470..226072541-chr1:226072642..226075761,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000243709	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10915894	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119529	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563427	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56391064	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66928485	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
2	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
3	chr1:226071000-226078600	Weak transcription	Lung	lung
4	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
7	chr1:226071200-226076200	Weak transcription	A549	lung
8	chr1:226071200-226078200	Weak transcription	Gastric	stomach
9	chr1:226071200-226078200	Weak transcription	HMEC	breast
10	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
12	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
14	chr1:226071800-226076800	Weak transcription	K562	blood
15	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:226073000-226077000	Strong transcription	Right Atrium	heart
21	chr1:226073200-226079800	Enhancers	Liver	Liver
22	chr1:226074200-226077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:226074400-226076800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:226074400-226077200	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:226074600-226076000	Enhancers	Fetal Lung	lung
26	chr1:226074600-226076000	Weak transcription	Pancreas	Pancrea
27	chr1:226074600-226076200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:226074600-226076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:226074600-226076600	Weak transcription	Stomach Mucosa	stomach
30	chr1:226074800-226076800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:226074800-226078800	Enhancers	Fetal Stomach	stomach
32	chr1:226075000-226075800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:226075000-226076000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:226075000-226076400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:226075000-226076600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:226075000-226076800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:226075200-226076600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:226075200-226077200	Active TSS	Colonic Mucosa	Colon
39	chr1:226075400-226075800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:226075400-226075800	Weak transcription	HepG2	liver
41	chr1:226075400-226076800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:226075400-226079200	Enhancers	Ovary	ovary
43	chr1:226075600-226075800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226075600-226075800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:226075600-226076200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:226075600-226076600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr1:226075600-226076800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:226075600-226076800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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