Variant report

Variant	rs1889312
Chromosome Location	chr1:154326473-154326474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154318653..154322078-chr1:154325246..154327386,3	K562	blood:
2	chr1:154326234..154328532-chr1:154330997..154333513,2	MCF-7	breast:
3	chr1:154325023..154326724-chr1:154450877..154451767,6	MCF-7	breast:
4	chr1:154321971..154324545-chr1:154326207..154328422,3	MCF-7	breast:
5	chr1:154296678..154299096-chr1:154324754..154327396,2	K562	blood:
6	chr1:154325628..154327486-chr1:154529705..154532667,2	K562	blood:
7	chr1:154326053..154326761-chr1:154377856..154378554,2	MCF-7	breast:
8	chr1:154190008..154193329-chr1:154323255..154327327,4	K562	blood:
9	chr1:154158325..154158864-chr1:154325830..154326669,2	MCF-7	breast:
10	chr1:154296558..154298616-chr1:154325091..154326672,3	MCF-7	breast:
11	chr1:154317447..154318373-chr1:154325751..154326693,2	K562	blood:
12	chr1:154320515..154323145-chr1:154323844..154326958,4	K562	blood:
13	chr1:154325453..154327893-chr1:154424368..154426017,2	MCF-7	breast:
14	chr1:154298802..154301853-chr1:154325196..154327308,4	MCF-7	breast:
15	chr1:154324756..154327782-chr1:154376990..154379231,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228013	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143515	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1073907	0.81[ASN][1000 genomes]
rs10908831	0.87[ASN][1000 genomes]
rs11265593	0.81[ASN][1000 genomes]
rs11265604	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11576193	0.81[ASN][1000 genomes]
rs11577266	0.81[ASN][1000 genomes]
rs11581043	0.82[ASN][1000 genomes]
rs1194584	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1194585	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1194586	0.83[ASN][1000 genomes]
rs1194587	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1194592	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12029292	0.82[ASN][1000 genomes]
rs12121085	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12143987	0.81[ASN][1000 genomes]
rs1760794	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1760795	0.83[ASN][1000 genomes]
rs2483712	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs28409746	0.82[ASN][1000 genomes]
rs61803410	0.81[ASN][1000 genomes]
rs6696089	0.81[ASN][1000 genomes]
rs72696290	0.81[ASN][1000 genomes]
rs7555891	0.81[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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154325400-154328200	Enhancers	Hela-S3	cervix
2	chr1:154325600-154327000	Weak transcription	Gastric	stomach
3	chr1:154325600-154327200	Enhancers	Lung	lung
4	chr1:154325800-154326600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:154325800-154326600	Enhancers	Colon Smooth Muscle	Colon
6	chr1:154325800-154326600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr1:154325800-154326600	Bivalent Enhancer	Fetal Thymus	thymus
8	chr1:154325800-154326600	Enhancers	HSMM	muscle
9	chr1:154325800-154326600	Enhancers	HUVEC	blood vessel
10	chr1:154325800-154326800	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:154325800-154326800	Enhancers	Esophagus	oesophagus
12	chr1:154325800-154326800	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr1:154325800-154326800	Enhancers	Ovary	ovary
14	chr1:154325800-154327000	Enhancers	NHLF	lung
15	chr1:154325800-154327200	Enhancers	Primary T cells from cord blood	blood
16	chr1:154325800-154327200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:154325800-154327400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:154325800-154327600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:154325800-154327600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:154325800-154327600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:154325800-154327600	Enhancers	Placenta	Placenta
22	chr1:154325800-154327800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:154325800-154328400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:154325800-154328400	Enhancers	Stomach Mucosa	stomach
25	chr1:154326000-154326600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:154326000-154326600	Enhancers	A549	lung
27	chr1:154326000-154326800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:154326000-154326800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:154326000-154327000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:154326000-154327000	Enhancers	Right Ventricle	heart
31	chr1:154326000-154327200	Enhancers	Fetal Muscle Leg	muscle
32	chr1:154326000-154327200	Enhancers	Pancreas	Pancrea
33	chr1:154326000-154327400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:154326000-154327400	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:154326000-154327600	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:154326000-154331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:154326200-154326600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:154326200-154326600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr1:154326200-154326600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:154326200-154326600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:154326200-154326600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:154326200-154326600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:154326200-154326600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr1:154326200-154326800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:154326200-154326800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:154326200-154326800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:154326200-154326800	Enhancers	Adipose Nuclei	Adipose
48	chr1:154326200-154326800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:154326200-154326800	Enhancers	HSMMtube	muscle
50	chr1:154326200-154327000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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