Variant report

Variant	rs12909207
Chromosome Location	chr15:55581024-55581025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55525732..55527261-chr15:55579170..55581534,2	K562	blood:
3	chr15:55579295..55584870-chr15:55607881..55612970,10	K562	blood:
4	chr15:55540071..55542542-chr15:55580150..55582152,2	K562	blood:
5	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
6	chr15:55580259..55584808-chr15:55609765..55612829,5	K562	blood:
7	chr15:55579894..55582757-chr15:55689915..55691723,2	K562	blood:
8	chr15:55580643..55583951-chr15:55698978..55701737,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260916	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000225973	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10518810	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11732	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12101327	1.00[ASN][1000 genomes]
rs12148255	1.00[ASN][1000 genomes]
rs12899120	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901464	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902233	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903378	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907135	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911948	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915831	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13329586	1.00[ASN][1000 genomes]
rs16953240	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16976307	1.00[ASN][1000 genomes]
rs16976314	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2414412	1.00[ASN][1000 genomes]
rs28378485	1.00[ASN][1000 genomes]
rs28413009	1.00[ASN][1000 genomes]
rs28483325	1.00[ASN][1000 genomes]
rs28636929	1.00[ASN][1000 genomes]
rs28653717	1.00[ASN][1000 genomes]
rs3203152	1.00[ASN][1000 genomes]
rs34473609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482650	1.00[ASN][1000 genomes]
rs34659706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855466	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396030	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35720996	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35768022	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35879962	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928893	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36119525	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294762	1.00[ASN][1000 genomes]
rs55706848	1.00[ASN][1000 genomes]
rs56340826	1.00[ASN][1000 genomes]
rs56760921	1.00[ASN][1000 genomes]
rs57094422	0.86[ASN][1000 genomes]
rs57412310	1.00[ASN][1000 genomes]
rs57489605	1.00[ASN][1000 genomes]
rs57648583	1.00[ASN][1000 genomes]
rs57809907	1.00[ASN][1000 genomes]
rs58053176	1.00[ASN][1000 genomes]
rs58220352	1.00[ASN][1000 genomes]
rs58447274	1.00[ASN][1000 genomes]
rs58507025	1.00[ASN][1000 genomes]
rs58550265	1.00[ASN][1000 genomes]
rs58581371	1.00[ASN][1000 genomes]
rs58697860	1.00[ASN][1000 genomes]
rs58734748	1.00[ASN][1000 genomes]
rs58743089	1.00[ASN][1000 genomes]
rs59228226	1.00[ASN][1000 genomes]
rs59562815	1.00[ASN][1000 genomes]
rs60003039	1.00[ASN][1000 genomes]
rs60071399	1.00[ASN][1000 genomes]
rs60439248	1.00[ASN][1000 genomes]
rs60561373	1.00[ASN][1000 genomes]
rs60755763	1.00[ASN][1000 genomes]
rs60925254	1.00[ASN][1000 genomes]
rs61069460	1.00[ASN][1000 genomes]
rs6493780	1.00[ASN][1000 genomes]
rs6493781	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs71476714	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476717	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476718	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476719	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7161981	1.00[ASN][1000 genomes]
rs7162724	1.00[ASN][1000 genomes]
rs7164158	1.00[ASN][1000 genomes]
rs7164895	1.00[ASN][1000 genomes]
rs7164984	1.00[ASN][1000 genomes]
rs7168455	1.00[ASN][1000 genomes]
rs7168882	1.00[ASN][1000 genomes]
rs7169460	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7170157	1.00[ASN][1000 genomes]
rs7170970	1.00[ASN][1000 genomes]
rs7173562	1.00[ASN][1000 genomes]
rs7176013	1.00[ASN][1000 genomes]
rs7177888	1.00[ASN][1000 genomes]
rs7181226	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7181805	1.00[ASN][1000 genomes]
rs7181999	1.00[ASN][1000 genomes]
rs73406912	1.00[ASN][1000 genomes]
rs73406921	1.00[ASN][1000 genomes]
rs73406928	1.00[ASN][1000 genomes]
rs73406986	1.00[ASN][1000 genomes]
rs73408827	1.00[ASN][1000 genomes]
rs73421633	1.00[ASN][1000 genomes]
rs73421665	1.00[ASN][1000 genomes]
rs74015572	1.00[ASN][1000 genomes]
rs8023354	1.00[ASN][1000 genomes]
rs8026454	1.00[ASN][1000 genomes]
rs8027135	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs8028482	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8029077	1.00[ASN][1000 genomes]
rs8029258	1.00[ASN][1000 genomes]
rs8031507	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8031625	0.86[ASN][1000 genomes]
rs8034029	1.00[ASN][1000 genomes]
rs8039224	1.00[ASN][1000 genomes]
rs8040840	1.00[ASN][1000 genomes]
rs8041044	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8041349	1.00[ASN][1000 genomes]
rs8041382	1.00[ASN][1000 genomes]
rs8041885	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8042642	1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55570200-55581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:55574400-55581400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:55575000-55581200	Weak transcription	Left Ventricle	heart
4	chr15:55575400-55581200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:55575600-55581200	Weak transcription	Right Atrium	heart
6	chr15:55575800-55581200	Weak transcription	Lung	lung
7	chr15:55575800-55581200	Weak transcription	Small Intestine	intestine
8	chr15:55576800-55582800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:55577800-55581200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:55579000-55582800	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr15:55579800-55581200	Weak transcription	Aorta	Aorta
12	chr15:55580000-55581400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:55580000-55582800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:55580000-55583000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr15:55580200-55582800	Active TSS	Stomach Mucosa	stomach
16	chr15:55580200-55582800	Active TSS	K562	blood
17	chr15:55580400-55581200	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:55580400-55581400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr15:55580400-55581800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr15:55580600-55581200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:55580600-55581200	Flanking Active TSS	Hela-S3	cervix
22	chr15:55580600-55581800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr15:55580600-55582800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:55580600-55582800	Active TSS	HMEC	breast
25	chr15:55580600-55583000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr15:55580800-55581200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:55580800-55581200	Active TSS	Primary T cells fromperipheralblood	blood
28	chr15:55580800-55581200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:55580800-55581200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr15:55580800-55581200	Flanking Active TSS	Fetal Lung	lung
31	chr15:55580800-55581200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:55580800-55581200	Flanking Active TSS	GM12878-XiMat	blood
33	chr15:55580800-55581400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr15:55580800-55581400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr15:55580800-55581400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:55580800-55581600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr15:55580800-55581600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr15:55580800-55581600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:55580800-55581600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:55580800-55581600	Flanking Active TSS	HUVEC	blood vessel
41	chr15:55580800-55581800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:55580800-55581800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:55580800-55582800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:55580800-55582800	Active TSS	Liver	Liver
45	chr15:55580800-55582800	Active TSS	Fetal Stomach	stomach
46	chr15:55580800-55583000	Active TSS	Rectal Smooth Muscle	rectum
47	chr15:55581000-55581200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr15:55581000-55581200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:55581000-55581200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr15:55581000-55581200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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