Variant report

Variant	rs528694481
Chromosome Location	chr15:76633986-76633987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:76632466-76635489	H1-hESC	embryonic stem cell:	n/a	chr15:76635415-76635425
2	HMGN3	chr15:76633942-76634147	K562	blood:	n/a	n/a
3	ZNF263	chr15:76633913-76634232	HEK293-T-REx	kidney:	n/a	chr15:76634018-76634039 chr15:76634062-76634083
4	POLR2A	chr15:76633835-76634384	H1-neurons	neurons:	n/a	n/a
5	E2F6	chr15:76632411-76635905	H1-hESC	embryonic stem cell:	n/a	chr15:76635069-76635076 chr15:76634966-76634975 chr15:76635069-76635076 chr15:76634913-76634922 chr15:76635069-76635076 chr15:76635068-76635077 chr15:76635429-76635439 chr15:76635129-76635143 chr15:76635065-76635077 chr15:76633879-76633888
6	EBF1	chr15:76633935-76634006	GM12878	blood:	n/a	chr15:76633962-76633973 chr15:76633964-76633974 chr15:76633962-76633975 chr15:76633964-76633973
7	E2F6	chr15:76633333-76635539	H1-hESC	embryonic stem cell:	n/a	chr15:76635069-76635076 chr15:76634966-76634975 chr15:76635069-76635076 chr15:76634913-76634922 chr15:76635069-76635076 chr15:76635068-76635077 chr15:76635429-76635439 chr15:76635129-76635143 chr15:76635065-76635077 chr15:76633879-76633888
8	SUZ12	chr15:76628987-76637136	NT2-D1	testis:	n/a	n/a
9	EBF1	chr15:76633761-76634147	GM12878	blood:	n/a	chr15:76633962-76633973 chr15:76633964-76633974 chr15:76633962-76633975 chr15:76633964-76633973
10	MAX	chr15:76633843-76634339	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
12	SUZ12	chr15:76629195-76634787	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr15:76633376-76635494	H1-hESC	embryonic stem cell:	n/a	chr15:76635415-76635425

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76633981-76634031	Hela-S3	cervix:	n/a
2	chr15:76633981-76634031	HCT-116	colon:	n/a
3	chr15:76633981-76634031	HRCEpiC	kidney:	n/a
4	chr15:76633981-76634031	AG09319	gingival:	n/a
5	chr15:76633981-76634031	ProgFib	skin:	n/a
6	chr15:76633981-76634031	PANC-1	pancreas:	n/a
7	chr15:76633981-76634031	HRE	kidney:	n/a
8	chr15:76633981-76634031	HAEpiC	amniotic membrane:	n/a
9	chr15:76633981-76634031	Caco-2	colon:	n/a
10	chr15:76633981-76634031	HL-60	blood:	n/a
11	chr15:76633981-76634031	IMR90	lung:	fetal
12	chr15:76633981-76634031	MCF-7	breast:	n/a
13	chr15:76633981-76634031	SK-N-SH_RA	brain:	n/a
14	chr15:76633981-76634031	HEK293	kidney:	embryo
15	chr15:76633981-76634031	NHDF-neo	bronchial:	n/a
16	chr15:76633981-76634031	GM19239	blood:	n/a
17	chr15:76633981-76634031	AG09309	skin:	n/a
18	chr15:76633981-76634031	GM12878	blood:	n/a
19	chr15:76633981-76634031	Jurkat	blood:	n/a
20	chr15:76633981-76634031	NH-A	brain:	n/a
21	chr15:76633981-76634031	GM12892	blood:	n/a
22	chr15:76633981-76634031	BJ	skin:	n/a
23	chr15:76633981-76634031	ECC-1	luminal epithelium:	n/a
24	chr15:76633981-76634031	MCF10A-Er-Src	breast:	n/a
25	chr15:76633981-76634031	SK-N-MC	brain:	n/a
26	chr15:76633981-76634031	GM06990	blood:	n/a
27	chr15:76633981-76634031	A549	lung:	n/a
28	chr15:76633981-76634031	SKMC	muscle:	n/a
29	chr15:76633981-76634031	HCM	heart:	n/a
30	chr15:76633981-76634031	BE2_C	brain:	n/a
31	chr15:76633981-76634031	NT2-D1	testis:	n/a
32	chr15:76633981-76634031	HEEpiC	esophagus:	n/a
33	chr15:76633981-76634031	NB4	blood:	n/a
34	chr15:76633981-76634031	AG10803	skin:	n/a
35	chr15:76633981-76634031	AoSMC	blood vessel:	n/a
36	chr15:76633981-76634031	HCF	heart:	n/a
37	chr15:76633981-76634031	CMK	blood:	n/a
38	chr15:76633981-76634031	T-47D	breast:	n/a
39	chr15:76633981-76634031	HIPEpiC	eye:	n/a
40	chr15:76633981-76634031	HCPEpiC	choroid plexus:	n/a
41	chr15:76633981-76634031	AG04449	skin:	fetal
42	chr15:76633981-76634031	SAEC	small airway:	n/a
43	chr15:76633981-76634031	NHBE	bronchial:	n/a
44	chr15:76633981-76634031	GM12891	blood:	n/a
45	chr15:76633981-76634031	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:76633981-76634031	HepG2	liver:	n/a
47	chr15:76633981-76634031	U87	brain:	n/a
48	chr15:76633981-76634031	K562	blood:	n/a
49	chr15:76633981-76634031	HUVEC	blood vessel:	n/a
50	chr15:76633981-76634031	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
2	chr15:76482702..76486394-chr15:76633656..76636389,3	K562	blood:
3	chr15:76481529..76484202-chr15:76633877..76636476,2	K562	blood:
4	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
5	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
6	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270036	TF binding region
ENSG00000270036	CpG island
ENSG00000159556	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000169758	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904399	chr15:76622903-76646575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv827391	chr15:76626571-76636327	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv525769	chr15:76632487-76661925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3396355	chr15:76633922-76636770	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:76627600-76634400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr15:76630200-76641800	Weak transcription	A549	lung
4	chr15:76630400-76636400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:76630600-76635600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:76631600-76634800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:76631600-76636400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:76631800-76634400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:76631800-76634400	Strong transcription	K562	blood
10	chr15:76631800-76635600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr15:76632000-76634400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
14	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
15	chr15:76632000-76634600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr15:76632000-76634600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr15:76632200-76634200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr15:76632200-76634200	Flanking Active TSS	Pancreas	Pancrea
19	chr15:76632200-76634400	Enhancers	Lung	lung
20	chr15:76632200-76634600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:76632200-76634600	Flanking Active TSS	Right Ventricle	heart
22	chr15:76632200-76635600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr15:76632400-76634000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:76632400-76634200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr15:76632400-76634800	Strong transcription	HepG2	liver
26	chr15:76632400-76635600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:76632400-76636000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr15:76632600-76634800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr15:76632800-76634600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr15:76632800-76636000	Bivalent Enhancer	Left Ventricle	heart
31	chr15:76632800-76636200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:76633000-76634400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:76633000-76634800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr15:76633000-76635400	Enhancers	Gastric	stomach
35	chr15:76633000-76635600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr15:76633000-76635600	Bivalent Enhancer	Spleen	Spleen
37	chr15:76633000-76635800	Bivalent Enhancer	Fetal Heart	heart
38	chr15:76633200-76634000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:76633200-76634000	Bivalent Enhancer	HMEC	breast
40	chr15:76633200-76634600	Bivalent Enhancer	Placenta	Placenta
41	chr15:76633200-76635000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr15:76633200-76635000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:76633200-76635600	Bivalent Enhancer	Liver	Liver
44	chr15:76633200-76635600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr15:76633200-76636000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:76633400-76634000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr15:76633400-76634000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr15:76633400-76634000	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr15:76633400-76634000	Enhancers	Esophagus	oesophagus
50	chr15:76633400-76634000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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