Variant report

Variant	rs28699253
Chromosome Location	chr15:76632532-76632533
allele	C/G
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	BHLHE40	chr15:76632473-76632973	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:76628957-76633759	H1-neurons	neurons:	n/a	n/a
4	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
5	PAX5	chr15:76632517-76632979	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:76631377-76633541	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr15:76628987-76637136	NT2-D1	testis:	n/a	n/a
8	POLR2A	chr15:76632133-76632532	K562	blood:	n/a	n/a
9	TCF3	chr15:76632506-76632903	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:76632365-76632651	HUVEC	blood vessel:	n/a	n/a
11	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr15:76632509-76632954	H1-hESC	embryonic stem cell:	n/a	n/a
13	SUZ12	chr15:76629195-76634787	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:76631898-76633726	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
2	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
3	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
4	chr15:76630323..76632934-chr15:77355490..77357171,2	K562	blood:
5	chr15:76630618..76633246-chr15:76671829..76673785,2	K562	blood:

Variant related genes	Relation type
ENSG00000270036	TF binding region
ENSG00000259514	Chromatin interaction
ENSG00000270036	Chromatin interaction
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:119 , 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	chr15:76629000-76633600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr15:76629200-76632600	Bivalent Enhancer	Fetal Thymus	thymus
5	chr15:76629400-76633400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
6	chr15:76629800-76632800	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr15:76630200-76641800	Weak transcription	A549	lung
8	chr15:76630400-76632600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr15:76630400-76636400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:76630600-76635600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:76631000-76632600	Bivalent Enhancer	Liver	Liver
12	chr15:76631200-76632600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:76631200-76633400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr15:76631400-76632600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:76631400-76633600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr15:76631600-76632600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr15:76631600-76632600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr15:76631600-76633200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr15:76631600-76633600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
20	chr15:76631600-76634800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr15:76631600-76636400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:76631800-76632800	Weak transcription	Hela-S3	cervix
23	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr15:76631800-76634400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:76631800-76634400	Strong transcription	K562	blood
28	chr15:76631800-76635600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr15:76632000-76632600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:76632000-76632600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr15:76632000-76632800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:76632000-76632800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr15:76632000-76632800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr15:76632000-76633200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr15:76632000-76633200	Active TSS	HSMM	muscle
36	chr15:76632000-76633400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
39	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
42	chr15:76632000-76634400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr15:76632000-76634600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr15:76632000-76634600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr15:76632200-76632600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:76632200-76632600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:76632200-76632600	Bivalent/Poised TSS	Esophagus	oesophagus

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