Variant report

Variant	rs57393446
Chromosome Location	chr15:42494536-42494537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42490478..42492456-chr15:42492848..42495369,2	K562	blood:
2	chr15:42493109..42497444-chr15:42498289..42501536,5	K562	blood:
3	chr15:42446822..42448866-chr15:42493306..42496254,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261002	Chromatin interaction
ENSG00000207712	Chromatin interaction
ENSG00000168907	Chromatin interaction
ENSG00000166887	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12437600	0.82[ASN][1000 genomes]
rs12438509	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12440087	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441016	0.83[ASN][1000 genomes]
rs12441642	0.95[ASN][1000 genomes]
rs1659213	0.81[AMR][1000 genomes]
rs1659218	0.84[AMR][1000 genomes]
rs1659219	0.84[AMR][1000 genomes]
rs1659221	0.84[AMR][1000 genomes]
rs1659222	0.84[AMR][1000 genomes]
rs1678984	0.84[AMR][1000 genomes]
rs1678992	0.84[AMR][1000 genomes]
rs16972776	0.85[AMR][1000 genomes]
rs16972779	0.84[ASN][1000 genomes]
rs16972887	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16973008	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16973045	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16973060	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2138831	0.97[ASN][1000 genomes]
rs2412688	0.89[ASN][1000 genomes]
rs2918460	0.84[AMR][1000 genomes]
rs3736099	1.00[ASN][1000 genomes]
rs3743005	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3743007	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3743008	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3825785	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4506867	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4923932	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923945	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4924627	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924630	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924631	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924644	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924672	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4924673	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55882551	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56257215	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56670003	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56987883	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57933952	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57973092	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57976413	0.89[ASN][1000 genomes]
rs58292736	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58313689	0.81[ASN][1000 genomes]
rs58712370	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59094161	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59132828	0.84[ASN][1000 genomes]
rs59138723	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59320762	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59893734	1.00[ASN][1000 genomes]
rs59974698	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60443443	1.00[ASN][1000 genomes]
rs60634548	0.89[ASN][1000 genomes]
rs61069354	0.89[ASN][1000 genomes]
rs61133768	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6493033	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7179203	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7180279	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7181979	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398938	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73402707	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73403365	0.89[ASN][1000 genomes]
rs73403548	0.81[AMR][1000 genomes]
rs73407403	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407407	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407488	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73409577	0.86[ASN][1000 genomes]
rs8025601	0.84[ASN][1000 genomes]
rs8027016	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041951	0.91[AMR][1000 genomes];0.83[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	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	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
3	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
4	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
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	12 gene(s)	inside rSNPs	diseases
7	nsv1054102	chr15:42493052-42528765	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42460000-42499200	Weak transcription	A549	lung
2	chr15:42460000-42499800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:42466000-42498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:42475000-42499200	Weak transcription	Stomach Mucosa	stomach
5	chr15:42476800-42499600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:42477200-42497800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:42478400-42498600	Weak transcription	Gastric	stomach
8	chr15:42480200-42496000	Weak transcription	Esophagus	oesophagus
9	chr15:42480400-42498600	Weak transcription	Small Intestine	intestine
10	chr15:42480400-42498800	Weak transcription	Right Ventricle	heart
11	chr15:42480600-42496000	Weak transcription	Spleen	Spleen
12	chr15:42481200-42499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:42481600-42497600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:42481600-42497600	Weak transcription	HUVEC	blood vessel
15	chr15:42481600-42498600	Weak transcription	Fetal Brain Male	brain
16	chr15:42482800-42499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:42483200-42499400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:42483400-42498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:42483400-42498600	Weak transcription	Fetal Kidney	kidney
20	chr15:42483600-42497600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:42483600-42498600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:42483600-42498600	Weak transcription	K562	blood
23	chr15:42483600-42499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:42483800-42499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:42484000-42499200	Weak transcription	HMEC	breast
26	chr15:42484400-42495800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:42484400-42499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:42484800-42498600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:42484800-42498800	Weak transcription	NHEK	skin
30	chr15:42484800-42499400	Weak transcription	Left Ventricle	heart
31	chr15:42487000-42496000	Weak transcription	Pancreas	Pancrea
32	chr15:42487400-42498400	Weak transcription	HepG2	liver
33	chr15:42489600-42494600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:42489600-42495200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:42489600-42496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:42489600-42496600	Strong transcription	Primary B cells from cord blood	blood
37	chr15:42490000-42499400	Weak transcription	Aorta	Aorta
38	chr15:42490000-42499400	Weak transcription	Colonic Mucosa	Colon
39	chr15:42490400-42495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:42490400-42498600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:42490400-42498600	Weak transcription	NHDF-Ad	bronchial
42	chr15:42490800-42498600	Weak transcription	Fetal Intestine Small	intestine
43	chr15:42490800-42499200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:42491000-42497600	Weak transcription	Dnd41	blood
45	chr15:42491000-42499000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:42491000-42499200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:42491000-42499200	Weak transcription	NHLF	lung
48	chr15:42491000-42499400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:42491200-42498600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:42491400-42495600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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