Variant report

Variant	rs554372612
Chromosome Location	chr15:55548244-55548245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55529333..55531848-chr15:55546495..55549479,2	K562	blood:
2	chr15:55542912..55546349-chr15:55547649..55552018,4	K562	blood:
3	chr15:55542658..55546534-chr15:55547557..55552018,8	K562	blood:
4	chr15:55546620..55548726-chr15:55579934..55582507,2	K562	blood:
5	chr15:55533451..55535034-chr15:55546175..55548758,2	K562	blood:
6	chr15:55532304..55535313-chr15:55545055..55548758,3	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55490000-55562800	Weak transcription	Ovary	ovary
2	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
3	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
4	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:55538600-55549000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
7	chr15:55541200-55549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
9	chr15:55543400-55550600	Weak transcription	Fetal Kidney	kidney
10	chr15:55543600-55548400	Weak transcription	NHEK	skin
11	chr15:55543600-55559200	Weak transcription	Hela-S3	cervix
12	chr15:55543800-55559400	Weak transcription	Thymus	Thymus
13	chr15:55544400-55548400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:55544400-55558800	Weak transcription	Right Ventricle	heart
15	chr15:55544800-55557800	Weak transcription	Pancreas	Pancrea
16	chr15:55545200-55549000	Enhancers	Stomach Mucosa	stomach
17	chr15:55545200-55561000	Weak transcription	Lung	lung
18	chr15:55546200-55559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:55546200-55559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:55546200-55559800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:55546400-55548600	Weak transcription	NH-A	brain
22	chr15:55547000-55548400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr15:55547000-55548400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:55547000-55548400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr15:55547000-55548600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr15:55547200-55548400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:55547200-55548400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:55547200-55548400	Flanking Active TSS	Liver	Liver
29	chr15:55547200-55548800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:55547200-55548800	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:55547200-55549400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:55547200-55549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:55547200-55549600	Enhancers	Small Intestine	intestine
34	chr15:55547200-55550000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:55547200-55551000	Genic enhancers	K562	blood
36	chr15:55547200-55553800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:55547400-55548400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:55547400-55548400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:55547400-55549200	Enhancers	HepG2	liver
40	chr15:55547400-55555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:55547600-55548400	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr15:55547600-55548400	Enhancers	HUVEC	blood vessel
43	chr15:55547600-55548600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr15:55547600-55548600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:55547600-55548800	Weak transcription	NHLF	lung
46	chr15:55547600-55549200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:55547600-55549200	Enhancers	HMEC	breast
48	chr15:55547600-55549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:55547600-55550000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:55547600-55550000	Enhancers	Sigmoid Colon	Sigmoid Colon

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