Variant report

Variant	rs1530836
Chromosome Location	chr15:42274536-42274537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42271112..42275222-chr15:42276247..42280163,4	K562	blood:
2	chr15:42273602..42277544-chr15:42286910..42290718,3	K562	blood:
3	chr15:42273351..42275852-chr15:42348244..42350332,2	MCF-7	breast:
4	chr15:42271180..42275933-chr15:42275941..42280163,5	K562	blood:
5	chr15:42265104..42267796-chr15:42273066..42275623,2	K562	blood:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1025227	1.00[EUR][1000 genomes]
rs1030417	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs1451047	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1614205	1.00[EUR][1000 genomes]
rs1621597	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648808	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648812	1.00[EUR][1000 genomes]
rs1648819	1.00[EUR][1000 genomes]
rs1648820	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668591	1.00[EUR][1000 genomes]
rs1704402	1.00[TSI][hapmap]
rs1704408	1.00[EUR][1000 genomes]
rs1704409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	1.00[EUR][1000 genomes]
rs57032192	1.00[EUR][1000 genomes]
rs595661	1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs890500	1.00[EUR][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42270800-42274600	Enhancers	Stomach Mucosa	stomach
2	chr15:42270800-42275000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:42271000-42276200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr15:42271600-42274600	Enhancers	Placenta	Placenta
5	chr15:42271600-42274800	Enhancers	K562	blood
6	chr15:42271600-42275000	Enhancers	Left Ventricle	heart
7	chr15:42273000-42274600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:42273000-42301800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:42273200-42288000	Weak transcription	Lung	lung
10	chr15:42273400-42276600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:42273600-42274800	Enhancers	Primary T cells from cord blood	blood
12	chr15:42273600-42275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:42273600-42278600	Weak transcription	Colonic Mucosa	Colon
14	chr15:42273800-42274800	Enhancers	Fetal Muscle Leg	muscle
15	chr15:42273800-42275000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:42273800-42275000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:42273800-42275000	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:42273800-42276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:42273800-42290000	Weak transcription	Right Atrium	heart
20	chr15:42273800-42301800	Weak transcription	Esophagus	oesophagus
21	chr15:42274000-42275000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:42274200-42274800	Weak transcription	Gastric	stomach
23	chr15:42274200-42275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:42274200-42275200	Enhancers	Fetal Heart	heart
25	chr15:42274200-42276400	Weak transcription	Spleen	Spleen
26	chr15:42274400-42274600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:42274400-42274600	Enhancers	Fetal Intestine Large	intestine

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