Variant report

Variant	rs2645113
Chromosome Location	chr6:37992368-37992369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37990598..37992933-chr6:37993341..37995757,2	MCF-7	breast:
2	chr6:37991053..37993262-chr6:37997611..38000343,2	K562	blood:
3	chr6:37992041..37994793-chr6:38000953..38003289,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10456097	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947713	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1187422	0.84[ASN][1000 genomes]
rs1187423	0.84[ASN][1000 genomes]
rs12190306	0.81[EUR][1000 genomes]
rs12192182	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12194618	0.82[EUR][1000 genomes]
rs12194823	0.86[EUR][1000 genomes]
rs12198907	0.84[ASN][1000 genomes]
rs12200258	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12204352	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206818	0.84[ASN][1000 genomes]
rs12211248	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12211981	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12212723	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12213151	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12213835	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12214375	0.80[EUR][1000 genomes]
rs13210701	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13214465	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13220131	0.92[EUR][1000 genomes]
rs16890344	0.86[EUR][1000 genomes]
rs171831	0.80[ASN][1000 genomes]
rs1812599	0.81[EUR][1000 genomes]
rs2132597	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259673	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259684	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259686	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259689	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259690	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259691	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259695	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259713	0.84[ASN][1000 genomes]
rs259715	0.84[ASN][1000 genomes]
rs259716	0.80[ASN][1000 genomes]
rs2645102	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645107	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2645116	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645117	0.90[AFR][1000 genomes]
rs2645120	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645124	0.88[AFR][1000 genomes]
rs2645127	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645128	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645131	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645134	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645137	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842500	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842517	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842527	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842529	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34871463	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35823566	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56098839	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140804	0.83[EUR][1000 genomes]
rs7747130	0.86[EUR][1000 genomes]
rs941850	0.80[EUR][1000 genomes]
rs9647619	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs966705	0.85[EUR][1000 genomes];0.84[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37985200-37995000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:37985200-37995400	Weak transcription	A549	lung
9	chr6:37985200-37995600	Weak transcription	Brain Angular Gyrus	brain
10	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
11	chr6:37987000-37993600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
13	chr6:37988400-37995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:37989200-37992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:37989400-37995000	Weak transcription	Liver	Liver
16	chr6:37989600-37994600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:37989600-37995000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:37989800-37994400	Weak transcription	Psoas Muscle	Psoas
19	chr6:37989800-37995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:37989800-37995400	Weak transcription	Brain Substantia Nigra	brain
21	chr6:37989800-37995400	Weak transcription	Left Ventricle	heart
22	chr6:37989800-37995600	Weak transcription	Primary T cells from cord blood	blood
23	chr6:37990400-38000400	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:37990600-38005800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:37990800-37994600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:37991600-37992800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:37992200-37992800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr6:37992200-37992800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:37992200-37992800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:37992200-37993200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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