Variant report

Variant	rs12916792
Chromosome Location	chr15:42570105-42570106
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42563158..42565885-chr15:42567865..42572400,4	MCF-7	breast:
2	chr15:42568840..42573155-chr15:42578082..42582332,4	K562	blood:
3	chr15:42568979..42570543-chr15:42572513..42574015,2	K562	blood:
4	chr15:42564172..42566903-chr15:42569265..42571976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214013	Chromatin interaction
ENSG00000103978	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10518757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070363	0.82[CHB][hapmap]
rs11070367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070371	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11631756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs11631823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11631922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11635876	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11637010	1.00[JPT][hapmap]
rs11856797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11856807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12324205	1.00[JPT][hapmap]
rs12441027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12902924	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12907489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12915946	0.82[CHB][hapmap]
rs12916523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12917071	0.82[CHB][hapmap]
rs1616957	0.82[CHB][hapmap]
rs1630294	0.82[CHB][hapmap]
rs1659214	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1659215	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1659216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1659220	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1659221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1659223	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1659224	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1659226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1678988	0.82[CHB][hapmap]
rs1678989	0.82[CHB][hapmap]
rs1678995	0.82[CHB][hapmap]
rs1678998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1678999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1679011	0.82[CHB][hapmap]
rs1703748	0.82[CHB][hapmap]
rs1712390	0.82[CHB][hapmap]
rs1712391	0.92[YRI][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];0.92[YRI][hapmap]
rs2289293	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2289297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412686	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412689	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412690	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2412702	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2578651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2620375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2620380	0.82[CHB][hapmap]
rs2620383	0.82[CHB][hapmap];0.82[YRI][hapmap]
rs2620387	0.82[CHB][hapmap]
rs2663096	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs28364400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364495	1.00[CHB][hapmap]
rs28364503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364504	1.00[CHB][hapmap]
rs28364508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28364511	1.00[CHB][hapmap]
rs28364519	1.00[CHB][hapmap]
rs28364544	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs28364559	1.00[CHB][hapmap]
rs2899044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2918458	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3736096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3736097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3743002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3743003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3803342	1.00[CHB][hapmap]
rs4244589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4268723	0.84[AFR][1000 genomes]
rs4556762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4583208	0.82[CHB][hapmap]
rs4923934	0.82[CHB][hapmap]
rs4923935	0.82[CHB][hapmap]
rs4923936	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4923941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924633	0.82[CHB][hapmap]
rs4924636	0.82[CHB][hapmap]
rs4924638	0.82[CHB][hapmap]
rs4924641	1.00[JPT][hapmap]
rs4924642	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924650	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924657	1.00[CHB][hapmap]
rs4924662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924664	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924665	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924667	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924669	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5029919	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs588695	0.82[CHB][hapmap]
rs593910	0.82[CHB][hapmap]
rs598441	0.92[YRI][hapmap]
rs602270	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs603468	0.92[YRI][hapmap]
rs607959	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs609660	0.92[YRI][hapmap]
rs613090	0.82[CHB][hapmap]
rs613131	0.92[YRI][hapmap]
rs613157	0.82[CHB][hapmap]
rs614733	0.82[CHB][hapmap]
rs614774	1.00[CHB][hapmap]
rs615023	0.82[CHB][hapmap]
rs621365	0.82[CHB][hapmap]
rs629255	0.82[CHB][hapmap]
rs635919	0.92[YRI][hapmap]
rs636604	0.82[CHB][hapmap]
rs637445	0.82[CHB][hapmap]
rs638240	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs644627	0.82[CHB][hapmap]
rs645304	0.82[CHB][hapmap]
rs648720	0.82[CHB][hapmap]
rs6493026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6493034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6493041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs652192	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs659354	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs668973	0.82[CHB][hapmap]
rs672946	0.82[CHB][hapmap]
rs677845	0.82[CHB][hapmap]
rs683227	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs683579	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs685521	0.91[YRI][hapmap]
rs7161982	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7163941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7167306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7169279	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7169553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7170943	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7173358	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7177193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7182963	1.00[JPT][hapmap]
rs7183843	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8023568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8023678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs8023714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8024390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8025364	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8030650	0.82[CHB][hapmap]
rs8031735	0.82[CHB][hapmap]
rs8037100	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8037627	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8043515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8108	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs9920851	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42566400-42576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42566600-42575000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:42567000-42571400	Weak transcription	Spleen	Spleen
4	chr15:42567000-42578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:42567200-42571400	Weak transcription	Gastric	stomach
6	chr15:42567200-42573000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:42567200-42577200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:42567200-42577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:42567200-42583800	Weak transcription	Fetal Kidney	kidney
10	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
11	chr15:42567600-42570400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:42567600-42570600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:42567600-42570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:42567600-42570600	Weak transcription	Left Ventricle	heart
15	chr15:42567600-42570600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:42567600-42570800	Weak transcription	Lung	lung
17	chr15:42567600-42571000	Weak transcription	Pancreas	Pancrea
18	chr15:42567600-42571200	Weak transcription	Placenta	Placenta
19	chr15:42567600-42571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:42567600-42572400	Weak transcription	Fetal Thymus	thymus
21	chr15:42567600-42573000	Weak transcription	Esophagus	oesophagus
22	chr15:42567600-42578400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:42567600-42579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:42567800-42570400	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:42568200-42570400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:42568200-42570600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:42568200-42570600	Weak transcription	HSMMtube	muscle
28	chr15:42568200-42570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:42568200-42570800	Weak transcription	Right Ventricle	heart
30	chr15:42568200-42571400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:42568200-42571600	Weak transcription	Colonic Mucosa	Colon
32	chr15:42568200-42571600	Weak transcription	Fetal Brain Female	brain
33	chr15:42568400-42570200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:42568400-42570400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:42568400-42570400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:42568400-42570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:42568400-42570800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:42568400-42571000	Weak transcription	Ovary	ovary
39	chr15:42568400-42571200	Weak transcription	Brain Germinal Matrix	brain
40	chr15:42568400-42571200	Weak transcription	Fetal Intestine Large	intestine
41	chr15:42568400-42571200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:42568400-42571400	Weak transcription	Primary T cells from cord blood	blood
43	chr15:42568400-42571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:42568400-42571400	Weak transcription	Aorta	Aorta
45	chr15:42568400-42571400	Weak transcription	Thymus	Thymus
46	chr15:42568400-42574800	Weak transcription	Psoas Muscle	Psoas
47	chr15:42568400-42604600	Weak transcription	NH-A	brain
48	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
49	chr15:42568600-42570200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:42568600-42570200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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