Variant report

Variant	rs5029919
Chromosome Location	chr15:42665844-42665845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 246 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:238)

rs_ID	r²[population]
rs10518757	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11070363	0.82[CHB][hapmap]
rs11070367	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11070368	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11070369	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11070371	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11631711	0.82[ASN][1000 genomes]
rs11631756	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11631823	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11631922	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11635876	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11637010	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11637045	0.82[ASN][1000 genomes]
rs11856797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11856807	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11858453	0.82[ASN][1000 genomes]
rs12324205	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12437815	0.82[ASN][1000 genomes]
rs12441027	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12592200	0.82[ASN][1000 genomes]
rs12902924	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12907489	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12913755	0.82[ASN][1000 genomes]
rs12915946	0.82[CHB][hapmap]
rs12916523	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12916792	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12917071	0.82[CHB][hapmap]
rs1616957	0.82[CHB][hapmap]
rs1630294	0.82[CHB][hapmap]
rs1659214	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1659215	0.82[CHB][hapmap]
rs1659216	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1659220	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1659221	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1659223	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1659224	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1659226	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1678988	0.82[CHB][hapmap]
rs1678989	0.82[CHB][hapmap]
rs1678995	0.82[CHB][hapmap]
rs1678997	0.82[ASN][1000 genomes]
rs1678998	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1678999	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1679011	0.82[CHB][hapmap]
rs16973177	0.86[EUR][1000 genomes]
rs16973182	0.86[EUR][1000 genomes]
rs16973184	0.86[EUR][1000 genomes]
rs16973188	0.86[EUR][1000 genomes]
rs16973206	0.86[EUR][1000 genomes]
rs1703748	0.82[CHB][hapmap]
rs1712397	0.82[CHB][hapmap]
rs1712408	0.82[CHB][hapmap]
rs1712409	0.82[CHB][hapmap]
rs1712417	0.82[CHB][hapmap]
rs1712420	0.82[CHB][hapmap]
rs1712442	0.82[CHB][hapmap]
rs17593	0.86[EUR][1000 genomes]
rs2289293	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2289297	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412677	0.82[ASN][1000 genomes]
rs2412678	0.82[ASN][1000 genomes]
rs2412681	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412683	0.82[ASN][1000 genomes]
rs2412684	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412686	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412689	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412690	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412691	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412694	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412695	0.82[ASN][1000 genomes]
rs2412697	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412698	0.82[ASN][1000 genomes]
rs2412699	0.82[ASN][1000 genomes]
rs2412702	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2578651	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2620372	0.82[ASN][1000 genomes]
rs2620374	0.82[ASN][1000 genomes]
rs2620375	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2620380	0.82[CHB][hapmap]
rs2620383	0.82[CHB][hapmap]
rs2620387	0.82[CHB][hapmap]
rs2663096	0.82[CHB][hapmap]
rs28364379	0.85[ASN][1000 genomes]
rs28364383	0.86[EUR][1000 genomes]
rs28364400	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs28364475	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs28364491	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs28364495	1.00[CHB][hapmap]
rs28364500	0.94[ASN][1000 genomes]
rs28364503	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs28364504	1.00[CHB][hapmap]
rs28364507	0.91[ASN][1000 genomes]
rs28364508	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs28364509	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs28364511	1.00[CHB][hapmap]
rs28364519	1.00[CHB][hapmap]
rs28364536	0.88[ASN][1000 genomes]
rs28364540	0.88[ASN][1000 genomes]
rs28364541	0.88[ASN][1000 genomes]
rs28364544	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs28364559	1.00[CHB][hapmap]
rs28489155	0.88[ASN][1000 genomes]
rs28745879	0.94[ASN][1000 genomes]
rs2899044	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2918458	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs3098422	0.82[ASN][1000 genomes]
rs3101895	0.82[ASN][1000 genomes]
rs3736095	0.82[ASN][1000 genomes]
rs3736096	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs3736097	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs3743002	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs3743003	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3803342	1.00[CHB][hapmap]
rs4244589	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4268723	0.82[ASN][1000 genomes]
rs4307925	0.86[EUR][1000 genomes]
rs4480780	0.82[ASN][1000 genomes]
rs4486855	0.86[EUR][1000 genomes]
rs4516202	0.86[EUR][1000 genomes]
rs4556762	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4583208	0.82[CHB][hapmap]
rs4583209	0.82[ASN][1000 genomes]
rs4595775	0.82[ASN][1000 genomes]
rs4617834	0.82[ASN][1000 genomes]
rs4923934	0.82[CHB][hapmap]
rs4923935	0.82[CHB][hapmap]
rs4923936	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923937	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923938	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923939	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923941	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923942	0.82[ASN][1000 genomes]
rs4923944	0.82[ASN][1000 genomes]
rs4924633	0.82[CHB][hapmap]
rs4924636	0.82[CHB][hapmap]
rs4924638	0.82[CHB][hapmap]
rs4924641	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924642	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4924643	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924649	0.82[ASN][1000 genomes]
rs4924650	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924651	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4924652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924655	0.82[ASN][1000 genomes]
rs4924656	0.82[ASN][1000 genomes]
rs4924657	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4924659	0.82[ASN][1000 genomes]
rs4924662	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924663	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924664	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924665	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924666	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924667	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924668	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924669	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924670	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4924671	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs5028173	0.82[ASN][1000 genomes]
rs5028174	0.82[ASN][1000 genomes]
rs602270	0.82[CHB][hapmap]
rs607959	0.82[CHB][hapmap]
rs613090	0.82[CHB][hapmap]
rs613157	0.82[CHB][hapmap]
rs614733	0.82[CHB][hapmap]
rs615023	0.82[CHB][hapmap]
rs621365	0.82[CHB][hapmap]
rs629255	0.82[CHB][hapmap]
rs637445	0.82[CHB][hapmap]
rs638240	0.82[CHB][hapmap]
rs645304	0.82[CHB][hapmap]
rs648720	0.82[CHB][hapmap]
rs6493026	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6493028	0.82[ASN][1000 genomes]
rs6493029	0.82[ASN][1000 genomes]
rs6493034	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6493037	0.82[ASN][1000 genomes]
rs6493038	0.82[ASN][1000 genomes]
rs6493039	0.82[ASN][1000 genomes]
rs6493040	0.82[ASN][1000 genomes]
rs6493041	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs652192	0.82[CHB][hapmap]
rs659354	0.82[CHB][hapmap]
rs668973	0.82[CHB][hapmap]
rs672946	0.82[CHB][hapmap]
rs67384392	0.82[ASN][1000 genomes]
rs683227	0.82[CHB][hapmap]
rs683579	0.82[CHB][hapmap]
rs7161982	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7163345	0.82[ASN][1000 genomes]
rs7163941	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7167306	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7167683	0.86[EUR][1000 genomes]
rs7169279	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7169553	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7170592	0.82[ASN][1000 genomes]
rs7170943	1.00[CHB][hapmap]
rs7171379	0.82[ASN][1000 genomes]
rs7171709	0.82[ASN][1000 genomes]
rs7173358	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7174880	0.86[EUR][1000 genomes]
rs7176724	0.82[ASN][1000 genomes]
rs7177193	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7177463	0.82[ASN][1000 genomes]
rs7182777	0.82[ASN][1000 genomes]
rs7182963	1.00[JPT][hapmap]
rs7183399	1.00[ASN][1000 genomes]
rs7183843	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs728507	0.86[EUR][1000 genomes]
rs728508	0.86[EUR][1000 genomes]
rs728509	0.86[EUR][1000 genomes]
rs8023568	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8023678	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8023714	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8024390	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8024452	0.86[EUR][1000 genomes]
rs8025364	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8026890	0.86[EUR][1000 genomes]
rs8027800	0.86[EUR][1000 genomes]
rs8030212	0.82[ASN][1000 genomes]
rs8030650	0.82[CHB][hapmap]
rs8031735	0.82[CHB][hapmap]
rs8033734	0.86[EUR][1000 genomes]
rs8033882	0.86[EUR][1000 genomes]
rs8033960	0.86[EUR][1000 genomes]
rs8035332	0.86[EUR][1000 genomes]
rs8035521	0.86[EUR][1000 genomes]
rs8037100	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs8037627	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8038771	0.86[EUR][1000 genomes]
rs8038967	0.86[EUR][1000 genomes]
rs8039470	0.86[EUR][1000 genomes]
rs8040129	0.86[EUR][1000 genomes]
rs8040698	0.82[ASN][1000 genomes]
rs8040720	0.82[ASN][1000 genomes]
rs8043033	0.94[ASN][1000 genomes]
rs8043515	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8108	0.82[CHB][hapmap]
rs9920851	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
2	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:42647800-42678200	Weak transcription	Ovary	ovary
4	chr15:42649800-42673200	Weak transcription	Thymus	Thymus
5	chr15:42652800-42684400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:42653200-42691600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:42654200-42677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:42654800-42669400	Weak transcription	Liver	Liver
9	chr15:42656000-42678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:42656800-42693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:42657200-42678800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:42659600-42676800	Weak transcription	Lung	lung
14	chr15:42663000-42691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:42663200-42669400	Weak transcription	Primary B cells from cord blood	blood
16	chr15:42663200-42678400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:42663600-42674600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr15:42663800-42668200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:42664800-42666600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr15:42664800-42667600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:42665200-42667800	Enhancers	Psoas Muscle	Psoas
22	chr15:42665400-42666200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:42665400-42666600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:42665400-42666600	Enhancers	Fetal Muscle Leg	muscle
25	chr15:42665600-42666000	Enhancers	HepG2	liver
26	chr15:42665600-42666800	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:42665600-42668000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:42665800-42666600	Enhancers	Left Ventricle	heart

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