Variant report

Variant	rs555221183
Chromosome Location	chr15:45458491-45458492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45456792-45459932	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:45456690-45460622	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:45457893-45460098	GM12878	blood:	n/a	n/a
4	FOSL2	chr15:45458467-45459929	HepG2	liver:	n/a	chr15:45459192-45459201 chr15:45459187-45459196
5	POLR2A	chr15:45458260-45460034	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
2	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
3	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
4	chr15:45456638..45458886-chr15:45696035..45698478,2	K562	blood:
5	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
6	chr15:45457064..45458836-chr15:45462821..45464924,2	MCF-7	breast:
7	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
8	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
9	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
10	chr15:45456567..45458793-chr15:45475778..45478216,2	MCF-7	breast:
11	chr15:45457813..45459796-chr15:45472458..45474302,2	MCF-7	breast:
12	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
13	chr15:45456315..45459130-chr15:45878271..45881206,2	K562	blood:
14	chr15:45457159..45458711-chr15:45469879..45471937,2	MCF-7	breast:
15	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
16	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
17	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
18	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
19	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000138606	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000260170	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv3323980	chr15:45458085-45460633	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
3	chr15:45449400-45458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:45454800-45458600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:45455400-45458600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:45455400-45458600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:45455400-45458600	Weak transcription	A549	lung
8	chr15:45455600-45458600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:45455600-45458600	Weak transcription	Placenta	Placenta
10	chr15:45455800-45458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:45455800-45458600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:45455800-45458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:45455800-45458600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:45455800-45458600	Weak transcription	Ovary	ovary
15	chr15:45455800-45458600	Weak transcription	Right Ventricle	heart
16	chr15:45455800-45458600	Weak transcription	HSMMtube	muscle
17	chr15:45455800-45458600	Weak transcription	K562	blood
18	chr15:45455800-45458800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:45456000-45458600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:45456000-45458600	Weak transcription	NH-A	brain
21	chr15:45456000-45458600	Weak transcription	NHLF	lung
22	chr15:45456000-45458600	Weak transcription	Osteobl	bone
23	chr15:45456400-45458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:45456600-45458600	Weak transcription	HSMM	muscle
25	chr15:45456600-45458600	Weak transcription	NHEK	skin
26	chr15:45457000-45458600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr15:45457000-45458600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr15:45457000-45458600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:45457000-45458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:45457000-45458600	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:45457000-45458600	Enhancers	Fetal Lung	lung
32	chr15:45457000-45458600	Enhancers	Fetal Stomach	stomach
33	chr15:45457200-45458600	Enhancers	Primary B cells from peripheral blood	blood
34	chr15:45457200-45458600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:45457200-45458600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr15:45457200-45458600	Enhancers	Fetal Brain Male	brain
37	chr15:45457200-45458800	Weak transcription	Gastric	stomach
38	chr15:45457400-45458600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:45457400-45458600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:45457400-45458600	Enhancers	Brain Anterior Caudate	brain
41	chr15:45457400-45458600	Enhancers	Fetal Brain Female	brain
42	chr15:45457400-45458600	Enhancers	Fetal Heart	heart
43	chr15:45457400-45458600	Enhancers	Fetal Muscle Leg	muscle
44	chr15:45457400-45458600	Enhancers	Pancreas	Pancrea
45	chr15:45457400-45458800	Enhancers	Primary hematopoietic stem cells	blood
46	chr15:45457600-45458600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:45457600-45458600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:45457600-45458600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr15:45457600-45458600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:45457600-45458600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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