Variant report

Variant	rs13418394
Chromosome Location	chr2:112866849-112866850
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	chr2:112854247..112856297-chr2:112866128..112867747,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084408	1.00[GIH][hapmap]
rs10165614	1.00[GIH][hapmap]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171359	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172310	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174680	1.00[GIH][hapmap]
rs10175344	1.00[ASN][1000 genomes]
rs10175752	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	1.00[GIH][hapmap]
rs10181117	1.00[GIH][hapmap]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[ASN][1000 genomes]
rs10182931	1.00[ASN][1000 genomes]
rs10183003	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10185747	1.00[GIH][hapmap]
rs10197735	1.00[ASN][1000 genomes]
rs10201041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204653	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204929	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10205793	1.00[GIH][hapmap]
rs10206255	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211152	1.00[GIH][hapmap]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[ASN][1000 genomes]
rs13383743	1.00[ASN][1000 genomes]
rs13387346	1.00[GIH][hapmap]
rs13391959	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13401258	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402707	1.00[GIH][hapmap]
rs13404771	1.00[GIH][hapmap]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417413	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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432863	1.00[GIH][hapmap]
rs2230517	1.00[GIH][hapmap]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723394	1.00[GIH][hapmap]
rs67246870	1.00[ASN][1000 genomes]
rs72825696	1.00[ASN][1000 genomes]
rs72829620	1.00[ASN][1000 genomes]
rs72829658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829697	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72831604	0.88[AFR][1000 genomes];0.87[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:7 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112843000-112869400	Weak transcription	Fetal Heart	heart
7	chr2:112845400-112875200	Weak transcription	Right Ventricle	heart
8	chr2:112847800-112867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:112851000-112867600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
11	chr2:112852000-112871200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:112853200-112871200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr2:112853200-112871200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr2:112853400-112871200	Strong transcription	Placenta	Placenta
15	chr2:112854400-112869400	Weak transcription	Esophagus	oesophagus
16	chr2:112855400-112871200	Strong transcription	NH-A	brain
17	chr2:112855800-112867200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:112856800-112869400	Weak transcription	Aorta	Aorta
19	chr2:112856800-112869400	Weak transcription	Gastric	stomach
20	chr2:112856800-112869400	Weak transcription	Pancreas	Pancrea
21	chr2:112856800-112869400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:112856800-112869400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:112856800-112870200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:112856800-112874200	Weak transcription	Lung	lung
25	chr2:112856800-112875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:112857000-112867400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:112857000-112869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
30	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
31	chr2:112857200-112877600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:112857400-112867200	Weak transcription	Fetal Stomach	stomach
33	chr2:112857400-112867200	Weak transcription	Left Ventricle	heart
34	chr2:112857400-112869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:112857400-112869400	Weak transcription	Spleen	Spleen
36	chr2:112858000-112867400	Weak transcription	Thymus	Thymus
37	chr2:112858400-112868000	Weak transcription	Fetal Kidney	kidney
38	chr2:112859600-112877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:112859800-112870600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:112860200-112871200	Strong transcription	Osteobl	bone
41	chr2:112862000-112867800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:112862400-112868800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:112863600-112870800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:112863800-112871200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:112864000-112867000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:112864200-112867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:112864600-112871000	Strong transcription	HSMM	muscle
48	chr2:112864800-112868200	Weak transcription	Colonic Mucosa	Colon
49	chr2:112864800-112869400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:112865000-112867200	Strong transcription	Primary hematopoietic stem cells	blood

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