Variant report

Variant	rs10172310
Chromosome Location	chr2:112883781-112883782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112879801..112881759-chr2:112882141..112885127,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171359	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175344	1.00[ASN][1000 genomes]
rs10175752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[ASN][1000 genomes]
rs10182931	1.00[ASN][1000 genomes]
rs10183003	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201041	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10204243	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204653	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204929	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206255	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[ASN][1000 genomes]
rs13383743	1.00[ASN][1000 genomes]
rs13391959	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13401258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421261	1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs72825696	1.00[ASN][1000 genomes]
rs72829620	1.00[ASN][1000 genomes]
rs72829658	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72829697	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72831604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	1.00[ASN][1000 genomes]
rs9631023	1.00[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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
2	chr2:112869800-112884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:112869800-112890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:112870400-112895000	Weak transcription	HMEC	breast
5	chr2:112870400-112895200	Weak transcription	Gastric	stomach
6	chr2:112875600-112891400	Weak transcription	HepG2	liver
7	chr2:112876000-112890000	Weak transcription	Ovary	ovary
8	chr2:112876000-112893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:112876000-112895000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:112876000-112895000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:112876000-112895000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:112876200-112890400	Weak transcription	K562	blood
13	chr2:112876600-112886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:112880400-112883800	Weak transcription	Fetal Lung	lung
15	chr2:112880400-112887800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:112880400-112888800	Weak transcription	HSMM	muscle
17	chr2:112880400-112893400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:112880400-112895000	Weak transcription	Pancreas	Pancrea
19	chr2:112881000-112883800	Weak transcription	Osteobl	bone
20	chr2:112881400-112884800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:112881400-112895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:112881600-112883800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:112881600-112885000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:112881800-112883800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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