Variant report

Variant	rs444413
Chromosome Location	chr2:113885826-113885827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113881539..113883723-chr2:113885379..113887857,3	K562	blood:
2	chr2:113874258..113877773-chr2:113883397..113886122,3	MCF-7	breast:
3	chr2:113885182..113887115-chr2:113914110..113915669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11677397	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs128964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011842	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs13030546	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs16065	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1630153	0.82[CEU][hapmap]
rs1794065	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234676	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2234677	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2234678	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2234679	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2853628	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087270	1.00[YRI][hapmap]
rs3087271	0.85[CEU][hapmap]
rs315927	0.82[CEU][hapmap]
rs315931	0.82[CEU][hapmap]
rs315936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396201	1.00[YRI][hapmap]
rs408392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251967	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4251968	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4251969	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251970	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251974	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251975	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251976	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251977	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251978	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251979	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251980	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251981	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251983	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251984	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251985	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251986	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs431726	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs432014	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs434792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs440286	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs442710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454078	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579543	0.81[AMR][1000 genomes]
rs598859	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878972	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113876000-113887400	Weak transcription	Gastric	stomach
3	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113882600-113886000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:113882600-113890000	Weak transcription	Lung	lung
6	chr2:113882800-113889200	Weak transcription	Stomach Mucosa	stomach
7	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:113883200-113886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113883200-113888600	Weak transcription	HMEC	breast
10	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:113883800-113886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:113885000-113886400	Active TSS	Liver	Liver
13	chr2:113885000-113886400	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr2:113885000-113890400	Strong transcription	NHEK	skin
15	chr2:113885200-113886400	Active TSS	Fetal Muscle Leg	muscle
16	chr2:113885200-113887800	Active TSS	Primary hematopoietic stem cells	blood
17	chr2:113885200-113887800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
19	chr2:113885400-113886600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus
21	chr2:113885600-113886000	Active TSS	Primary T cells from cord blood	blood
22	chr2:113885600-113886000	Enhancers	Brain Substantia Nigra	brain
23	chr2:113885600-113886200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:113885600-113886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:113885800-113886000	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:113885800-113886200	Active TSS	Primary B cells from cord blood	blood
27	chr2:113885800-113886400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:113885800-113891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:113885800-113896200	Weak transcription	Placenta	Placenta

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