Variant report

Variant	rs1994888
Chromosome Location	chr15:57810972-57810973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57809587..57811723-chr15:57816145..57818249,2	K562	blood:
2	chr15:57806827..57808409-chr15:57810785..57812337,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10220805	0.93[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10518923	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs10775165	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10851614	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs10851615	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs10851616	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10851617	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11071323	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs11071324	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11071325	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11071326	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11630712	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11630713	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11630740	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11631943	0.80[EUR][1000 genomes]
rs11634739	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11635065	0.82[ASN][1000 genomes]
rs11637265	0.80[EUR][1000 genomes]
rs12323972	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12437888	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs12438901	0.81[EUR][1000 genomes]
rs12439099	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12439126	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12442969	0.81[EUR][1000 genomes]
rs12592077	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs12593650	0.90[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12593685	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12593721	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs12594455	0.81[EUR][1000 genomes]
rs12594504	0.81[EUR][1000 genomes]
rs12595135	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12595169	0.93[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1280387	0.86[CEU][hapmap]
rs1319900	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1666567	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16977531	0.80[EUR][1000 genomes]
rs16977534	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs16977558	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16977560	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16977561	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16977567	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977585	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1980048	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1994889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2087981	0.81[EUR][1000 genomes]
rs2131740	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2172613	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2172614	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2414510	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2414511	0.98[ASN][1000 genomes]
rs2942043	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs34947057	0.85[ASN][1000 genomes]
rs35709805	0.88[ASN][1000 genomes]
rs4545749	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55653578	0.86[ASN][1000 genomes]
rs57900088	0.86[ASN][1000 genomes]
rs58161678	0.81[EUR][1000 genomes]
rs58253526	0.81[EUR][1000 genomes]
rs7164486	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7167112	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs7496403	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs878425	0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs932028	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs955206	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs9806311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:57801800-57819000	Weak transcription	Esophagus	oesophagus
4	chr15:57802000-57819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:57802600-57846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:57802800-57822600	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:57803000-57818800	Weak transcription	Fetal Intestine Large	intestine
8	chr15:57803200-57819400	Weak transcription	Ovary	ovary
9	chr15:57803200-57842800	Weak transcription	Aorta	Aorta
10	chr15:57805400-57814200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:57807000-57816200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:57807000-57818400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:57807400-57814200	Strong transcription	Liver	Liver
14	chr15:57808400-57817200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr15:57808600-57811000	Enhancers	Placenta	Placenta
16	chr15:57808600-57817200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:57808600-57817800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:57808800-57811000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:57808800-57811000	Strong transcription	Pancreas	Pancrea
20	chr15:57808800-57811200	Strong transcription	Fetal Intestine Small	intestine
21	chr15:57808800-57812600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:57808800-57818000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:57808800-57818000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:57808800-57818200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:57809000-57811200	Strong transcription	HepG2	liver
26	chr15:57809000-57814200	Weak transcription	Stomach Mucosa	stomach
27	chr15:57809000-57817200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:57809200-57812000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:57809200-57813800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:57809400-57811000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr15:57809400-57811800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr15:57809400-57814200	Weak transcription	Brain Anterior Caudate	brain
33	chr15:57809400-57816600	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:57809600-57812000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:57809600-57812200	Strong transcription	Fetal Stomach	stomach
36	chr15:57809600-57813800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:57809800-57814000	Weak transcription	Fetal Kidney	kidney
38	chr15:57809800-57815600	Weak transcription	Lung	lung
39	chr15:57810000-57813800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:57810000-57814400	Weak transcription	Fetal Lung	lung
41	chr15:57810200-57814000	Weak transcription	Brain Angular Gyrus	brain
42	chr15:57810400-57814400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:57810600-57811200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:57810600-57813000	Enhancers	Fetal Heart	heart
45	chr15:57810800-57811600	Enhancers	HUVEC	blood vessel
46	chr15:57810800-57812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:57810800-57813800	Weak transcription	Gastric	stomach

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