Variant report

Variant	rs2373421
Chromosome Location	chr2:38844133-38844134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38828087..38831042-chr2:38842947..38845050,2	MCF-7	breast:
2	chr2:38838797..38841106-chr2:38843621..38847033,3	MCF-7	breast:
3	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
4	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10204680	0.94[JPT][hapmap]
rs12329205	0.83[JPT][hapmap]
rs12992482	0.90[EUR][1000 genomes]
rs13010091	0.90[EUR][1000 genomes]
rs13011896	0.85[EUR][1000 genomes]
rs13015860	0.90[EUR][1000 genomes]
rs13016108	0.90[EUR][1000 genomes]
rs13016885	0.80[EUR][1000 genomes]
rs13025153	0.80[EUR][1000 genomes]
rs13032371	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13393767	0.81[ASN][1000 genomes]
rs13412171	0.81[CHB][hapmap]
rs13431551	0.90[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13432435	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13432610	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1368114	0.90[CEU][hapmap]
rs1579537	0.90[CEU][hapmap]
rs17022983	0.90[EUR][1000 genomes]
rs17022996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023003	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs17493692	0.87[EUR][1000 genomes]
rs17575960	0.94[JPT][hapmap]
rs2003209	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099261	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2116383	0.80[EUR][1000 genomes]
rs2116385	0.81[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2163551	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2217537	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253519	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs2373420	0.90[EUR][1000 genomes]
rs2373422	0.90[EUR][1000 genomes]
rs2373423	0.83[JPT][hapmap];0.82[YRI][hapmap]
rs34450185	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35273515	0.80[EUR][1000 genomes]
rs35613649	0.80[EUR][1000 genomes]
rs36057155	0.95[ASN][1000 genomes]
rs6544169	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6544171	0.83[ASN][1000 genomes]
rs6721860	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs67326552	0.87[EUR][1000 genomes]
rs6733950	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6742843	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6745646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757844	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67772386	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7562949	0.81[ASN][1000 genomes]
rs7566698	0.81[ASN][1000 genomes]
rs7609065	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs891706	0.84[ASN][1000 genomes]
rs919698	0.88[JPT][hapmap]

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38838600-38845000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:38839000-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:38841000-38846600	Weak transcription	HSMMtube	muscle
5	chr2:38841200-38846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:38841200-38846600	Weak transcription	NHLF	lung
7	chr2:38841400-38845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:38841600-38845600	Weak transcription	Fetal Kidney	kidney
9	chr2:38841800-38844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:38842000-38844400	Enhancers	HMEC	breast
11	chr2:38842200-38845800	Weak transcription	Stomach Mucosa	stomach
12	chr2:38842200-38846200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:38842400-38844400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:38843000-38845000	Enhancers	HepG2	liver
15	chr2:38843000-38845600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:38843000-38846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:38843000-38846600	Weak transcription	Osteobl	bone
18	chr2:38843000-38846800	Weak transcription	HSMM	muscle
19	chr2:38843400-38844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:38843400-38846800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:38843600-38844400	Weak transcription	K562	blood
22	chr2:38843600-38847200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:38843800-38846600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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