Variant report

Variant	rs12443429
Chromosome Location	chr15:56539742-56539743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56369125..56370857-chr15:56537851..56540743,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs1031077	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10518839	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10518842	0.88[ASN][1000 genomes]
rs10518843	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10851601	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10851603	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10851604	0.92[ASN][1000 genomes]
rs11071245	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11071252	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11071253	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs11071254	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11071255	0.92[ASN][1000 genomes]
rs11629674	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11629809	0.92[ASN][1000 genomes]
rs11630394	0.92[ASN][1000 genomes]
rs11631518	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11631910	0.92[ASN][1000 genomes]
rs11631915	0.88[ASN][1000 genomes]
rs11632023	0.90[ASN][1000 genomes]
rs11632081	0.92[ASN][1000 genomes]
rs11632087	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs11632091	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs11632394	0.92[ASN][1000 genomes]
rs11632619	0.92[ASN][1000 genomes]
rs11634404	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11634455	0.87[ASN][1000 genomes]
rs11634689	0.91[ASN][1000 genomes]
rs11636035	0.92[ASN][1000 genomes]
rs11636040	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11637507	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11637515	0.92[ASN][1000 genomes]
rs11637789	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11637998	0.92[ASN][1000 genomes]
rs11638709	0.88[ASN][1000 genomes]
rs12437864	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12439682	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12439907	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12440142	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12442539	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12443042	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs12443118	0.81[ASN][1000 genomes]
rs12591093	0.92[ASN][1000 genomes]
rs12591236	0.86[ASN][1000 genomes]
rs12591270	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12591294	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591980	0.88[ASN][1000 genomes]
rs12592096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12592130	0.90[ASN][1000 genomes]
rs12592449	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12592881	0.90[ASN][1000 genomes]
rs12592899	0.92[ASN][1000 genomes]
rs12593096	0.92[ASN][1000 genomes]
rs12593439	0.90[ASN][1000 genomes]
rs12593569	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs12593713	0.92[ASN][1000 genomes]
rs12593752	0.88[ASN][1000 genomes]
rs12594038	0.90[ASN][1000 genomes]
rs12594103	0.83[ASN][1000 genomes]
rs12594121	0.92[ASN][1000 genomes]
rs12594245	0.88[ASN][1000 genomes]
rs12594860	0.88[ASN][1000 genomes]
rs12594908	0.88[ASN][1000 genomes]
rs12594941	0.95[CHB][hapmap];1.00[YRI][hapmap]
rs12595072	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12595323	0.92[ASN][1000 genomes]
rs12595366	0.90[ASN][1000 genomes]
rs12595428	0.92[ASN][1000 genomes]
rs12595490	0.89[ASN][1000 genomes]
rs12595496	0.89[ASN][1000 genomes]
rs12595557	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12595649	0.88[ASN][1000 genomes]
rs12595690	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12595840	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1402173	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs1550586	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs16976734	0.85[YRI][hapmap]
rs16976760	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16976788	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16976792	0.88[ASN][1000 genomes]
rs16976801	0.88[ASN][1000 genomes]
rs16976810	0.88[ASN][1000 genomes]
rs16976821	0.88[ASN][1000 genomes]
rs16976826	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976831	0.92[ASN][1000 genomes]
rs16976832	0.92[ASN][1000 genomes]
rs16976847	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs17841131	0.88[ASN][1000 genomes]
rs1867089	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs1879344	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs1879345	0.88[ASN][1000 genomes]
rs1879347	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1879348	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1879349	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs2162216	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs2414465	0.92[ASN][1000 genomes]
rs2414467	0.92[ASN][1000 genomes]
rs2414468	0.92[ASN][1000 genomes]
rs2414471	0.94[ASN][1000 genomes]
rs2414472	0.93[ASN][1000 genomes]
rs2682045	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs2718930	1.00[CEU][hapmap]
rs2899596	0.88[ASN][1000 genomes]
rs2899597	0.88[ASN][1000 genomes]
rs34401800	0.90[ASN][1000 genomes]
rs35607436	0.92[ASN][1000 genomes]
rs4142479	0.90[CHB][hapmap]
rs4363812	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55942364	0.92[ASN][1000 genomes]
rs55957636	0.92[ASN][1000 genomes]
rs56083605	0.92[ASN][1000 genomes]
rs56156930	0.88[ASN][1000 genomes]
rs56215018	0.92[ASN][1000 genomes]
rs56305704	0.80[ASN][1000 genomes]
rs56398703	0.91[ASN][1000 genomes]
rs58084889	0.83[ASN][1000 genomes]
rs58265497	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58934221	0.92[ASN][1000 genomes]
rs59025920	0.81[ASN][1000 genomes]
rs59230019	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60210425	0.88[ASN][1000 genomes]
rs60417530	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61270078	0.91[ASN][1000 genomes]
rs61466134	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68127612	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7177904	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs72736479	0.81[ASN][1000 genomes]
rs72736495	0.81[ASN][1000 genomes]
rs72736498	0.81[ASN][1000 genomes]
rs72738604	0.83[ASN][1000 genomes]
rs72738605	0.81[ASN][1000 genomes]
rs72738607	0.83[ASN][1000 genomes]
rs72738608	0.81[ASN][1000 genomes]
rs72738615	0.86[ASN][1000 genomes]
rs72738616	0.90[ASN][1000 genomes]
rs72738618	0.90[ASN][1000 genomes]
rs72738620	0.86[ASN][1000 genomes]
rs72738631	0.90[ASN][1000 genomes]
rs72738636	0.88[ASN][1000 genomes]
rs72738638	0.88[ASN][1000 genomes]
rs72738646	0.86[ASN][1000 genomes]
rs72738648	0.88[ASN][1000 genomes]
rs72738654	0.88[ASN][1000 genomes]
rs72738656	0.88[ASN][1000 genomes]
rs72738658	0.88[ASN][1000 genomes]
rs72738659	0.88[ASN][1000 genomes]
rs72738660	0.88[ASN][1000 genomes]
rs72738662	0.88[ASN][1000 genomes]
rs72738664	0.88[ASN][1000 genomes]
rs72738666	0.88[ASN][1000 genomes]
rs72738667	0.88[ASN][1000 genomes]
rs72738668	0.88[ASN][1000 genomes]
rs72738674	0.92[ASN][1000 genomes]
rs72738675	0.92[ASN][1000 genomes]
rs72738676	0.92[ASN][1000 genomes]
rs72738679	0.92[ASN][1000 genomes]
rs72738680	0.92[ASN][1000 genomes]
rs72738682	0.92[ASN][1000 genomes]
rs72738683	0.92[ASN][1000 genomes]
rs72738684	0.92[ASN][1000 genomes]
rs72738685	0.92[ASN][1000 genomes]
rs72738686	0.92[ASN][1000 genomes]
rs72738694	0.92[ASN][1000 genomes]
rs72738696	0.92[ASN][1000 genomes]
rs72738697	0.92[ASN][1000 genomes]
rs72738701	0.90[ASN][1000 genomes]
rs72740503	0.90[ASN][1000 genomes]
rs72740505	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72740506	0.92[ASN][1000 genomes]
rs72740508	0.94[ASN][1000 genomes]
rs72740509	0.94[ASN][1000 genomes]
rs72740514	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs748970	0.94[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs764014	1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs8023554	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs8027386	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030605	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56537800-56540400	Weak transcription	Small Intestine	intestine
2	chr15:56538200-56546600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:56538400-56539800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:56538400-56539800	Weak transcription	Right Atrium	heart
5	chr15:56538400-56540000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:56538400-56540400	Weak transcription	Hela-S3	cervix
7	chr15:56538400-56540800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:56538400-56541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:56538400-56541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:56538400-56541000	Weak transcription	Fetal Lung	lung
11	chr15:56538400-56544000	Weak transcription	Fetal Brain Male	brain
12	chr15:56538400-56546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:56538600-56540200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:56538600-56540200	Weak transcription	Fetal Intestine Small	intestine
15	chr15:56538600-56540600	Weak transcription	Stomach Mucosa	stomach
16	chr15:56538600-56543400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:56538800-56540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:56538800-56540400	Weak transcription	K562	blood
19	chr15:56538800-56540800	Weak transcription	HepG2	liver
20	chr15:56538800-56541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:56538800-56541000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:56538800-56541000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:56538800-56541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:56538800-56541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:56538800-56541000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:56538800-56544000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:56538800-56544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:56538800-56546400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:56538800-56546600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:56539200-56540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:56539600-56539800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:56539600-56539800	Enhancers	Gastric	stomach

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