Variant report

Variant	rs376029580
Chromosome Location	chr15:42097925-42097926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42096500-42098053	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42097924-42097974	CMK	blood:	n/a
2	chr15:42097924-42097974	HAEpiC	amniotic membrane:	n/a
3	chr15:42097924-42097974	HCPEpiC	choroid plexus:	n/a
4	chr15:42097924-42097974	HMEC	breast:	n/a
5	chr15:42097924-42097974	GM12892	blood:	n/a
6	chr15:42097924-42097974	SK-N-SH	brain:	n/a
7	chr15:42097924-42097974	NT2-D1	testis:	n/a
8	chr15:42097924-42097974	PrEC	prostate:	n/a
9	chr15:42097924-42097974	H1-hESC	embryonic stem cell:	embryo
10	chr15:42097924-42097974	LNCaP	prostate:	n/a
11	chr15:42097924-42097974	AG09319	gingival:	n/a
12	chr15:42097924-42097974	NHDF-neo	bronchial:	n/a
13	chr15:42097924-42097974	SK-N-MC	brain:	n/a
14	chr15:42097924-42097974	AG04450	lung:	fetal
15	chr15:42097924-42097974	RPTEC	kidney:	n/a
16	chr15:42097924-42097974	HCT-116	colon:	n/a
17	chr15:42097924-42097974	AG09309	skin:	n/a
18	chr15:42097924-42097974	NH-A	brain:	n/a
19	chr15:42097924-42097974	HUVEC	blood vessel:	n/a
20	chr15:42097924-42097974	PANC-1	pancreas:	n/a
21	chr15:42097924-42097974	HRCEpiC	kidney:	n/a
22	chr15:42097924-42097974	ProgFib	skin:	n/a
23	chr15:42097924-42097974	U87	brain:	n/a
24	chr15:42097924-42097974	HEK293	kidney:	embryo
25	chr15:42097924-42097974	BJ	skin:	n/a
26	chr15:42097924-42097974	NHBE	bronchial:	n/a
27	chr15:42097924-42097974	HRE	kidney:	n/a
28	chr15:42097924-42097974	K562	blood:	n/a
29	chr15:42097924-42097974	Jurkat	blood:	n/a
30	chr15:42097924-42097974	BE2_C	brain:	n/a
31	chr15:42097924-42097974	GM12878	blood:	n/a
32	chr15:42097924-42097974	Hepatocyte	liver:	n/a
33	chr15:42097924-42097974	HRPEpiC	eye:	n/a
34	chr15:42097924-42097974	HL-60	blood:	n/a
35	chr15:42097924-42097974	SKMC	muscle:	n/a
36	chr15:42097924-42097974	SAEC	small airway:	n/a
37	chr15:42097924-42097974	GM19239	blood:	n/a
38	chr15:42097924-42097974	A549	lung:	n/a
39	chr15:42097924-42097974	SK-N-SH_RA	brain:	n/a
40	chr15:42097924-42097974	Caco-2	colon:	n/a
41	chr15:42097924-42097974	IMR90	lung:	fetal
42	chr15:42097924-42097974	ECC-1	luminal epithelium:	n/a
43	chr15:42097924-42097974	HIPEpiC	eye:	n/a
44	chr15:42097924-42097974	ovcar-3	ovarian:	n/a
45	chr15:42097924-42097974	AoSMC	blood vessel:	n/a
46	chr15:42097924-42097974	HCM	heart:	n/a
47	chr15:42097924-42097974	Hela-S3	cervix:	n/a
48	chr15:42097924-42097974	GM06990	blood:	n/a
49	chr15:42097924-42097974	T-47D	breast:	n/a
50	chr15:42097924-42097974	HCF	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42090667..42093233-chr15:42097205..42099737,2	K562	blood:
2	chr15:41804293..41806206-chr15:42097508..42099902,2	K562	blood:
3	chr15:42096733..42098481-chr15:42102481..42104605,2	K562	blood:

No data

Variant related genes	Relation type
MAPKBP1	TF binding region
MAPKBP1	CpG island
ENSG00000137802	Chromatin interaction
ENSG00000062524	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1054671	chr15:42016097-42098896	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv904113	chr15:42050390-42118971	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription 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 target site	19 gene(s)	inside rSNPs	diseases
6	nsv904114	chr15:42050390-42119900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	esv1816120	chr15:42093384-42171578	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
13	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
15	nsv974563	chr15:42096771-42099742	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42070200-42109800	Weak transcription	Fetal Brain Male	brain
2	chr15:42083600-42104600	Weak transcription	Liver	Liver
3	chr15:42083600-42109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42083800-42098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:42083800-42098600	Weak transcription	Pancreas	Pancrea
6	chr15:42083800-42098600	Weak transcription	A549	lung
7	chr15:42083800-42103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr15:42083800-42103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:42083800-42104400	Weak transcription	Colonic Mucosa	Colon
10	chr15:42083800-42105000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:42083800-42119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:42084000-42098400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:42088600-42103000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:42089400-42114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:42090000-42109800	Weak transcription	Small Intestine	intestine
16	chr15:42090600-42101600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:42091400-42105400	Weak transcription	HSMMtube	muscle
18	chr15:42091800-42101200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:42092000-42101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:42092200-42099400	Strong transcription	Fetal Intestine Small	intestine
21	chr15:42092200-42109400	Weak transcription	HepG2	liver
22	chr15:42093200-42101600	Weak transcription	Ovary	ovary
23	chr15:42093200-42104800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:42093400-42104000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:42093600-42098600	Weak transcription	Left Ventricle	heart
26	chr15:42093600-42099200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:42093600-42100000	Enhancers	HMEC	breast
28	chr15:42093600-42101800	Weak transcription	Adipose Nuclei	Adipose
29	chr15:42093600-42103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:42093600-42103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:42093600-42104200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:42093600-42104200	Weak transcription	Dnd41	blood
33	chr15:42093600-42105200	Weak transcription	Brain Germinal Matrix	brain
34	chr15:42093800-42101400	Weak transcription	HSMM	muscle
35	chr15:42093800-42103400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:42094200-42098000	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:42094200-42101600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr15:42094200-42102000	Weak transcription	Primary B cells from cord blood	blood
39	chr15:42094200-42104400	Weak transcription	Fetal Lung	lung
40	chr15:42094200-42104600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:42094400-42098600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:42094600-42101400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:42094600-42101400	Weak transcription	NH-A	brain
44	chr15:42094600-42104400	Weak transcription	Fetal Brain Female	brain
45	chr15:42094800-42103200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:42095000-42101000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:42095000-42101200	Weak transcription	Osteobl	bone
48	chr15:42095200-42098600	Weak transcription	NHDF-Ad	bronchial
49	chr15:42095200-42101200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:42095200-42104400	Weak transcription	GM12878-XiMat	blood

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