Variant report

Variant	rs548400431
Chromosome Location	chr15:76632758-76632759
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	MTA3	chr15:76632694-76633182	GM12878	blood:	n/a	n/a
2	MAX	chr15:76632466-76635489	H1-hESC	embryonic stem cell:	n/a	chr15:76635415-76635425
3	BHLHE40	chr15:76632473-76632973	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:76628957-76633759	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr15:76632672-76632795	GM19238	blood:	n/a	n/a
6	SRF	chr15:76632753-76633148	GM12878	blood:	n/a	n/a
7	ZNF143	chr15:76632716-76633143	H1-hESC	embryonic stem cell:	n/a	chr15:76633129-76633139
8	CTCF	chr15:76632700-76632850	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr15:76632720-76632870	GM12868	blood:	n/a	n/a
10	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
11	PAX5	chr15:76632517-76632979	GM12892	blood:	n/a	n/a
12	POLR2A	chr15:76631377-76633541	H1-neurons	neurons:	n/a	n/a
13	SUZ12	chr15:76628987-76637136	NT2-D1	testis:	n/a	n/a
14	MAX	chr15:76632599-76632797	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:76632575-76633043	K562	blood:	n/a	n/a
16	CTCF	chr15:76632740-76632890	BJ	skin:	n/a	n/a
17	POLR2A	chr15:76632758-76632767	K562	blood:	n/a	n/a
18	TCF3	chr15:76632506-76632903	GM12878	blood:	n/a	n/a
19	CTCF	chr15:76632655-76632766	GM12892	blood:	n/a	n/a
20	CTCF	chr15:76632678-76632765	GM12891	blood:	n/a	n/a
21	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr15:76632509-76632954	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr15:76632733-76632931	GM12878	blood:	n/a	n/a
24	SUZ12	chr15:76629195-76634787	H1-hESC	embryonic stem cell:	n/a	n/a
25	RUNX3	chr15:76632674-76633334	GM12878	blood:	n/a	n/a
26	ELF1	chr15:76632562-76633128	GM12878	blood:	n/a	chr15:76632944-76632953
27	POLR2A	chr15:76631898-76633726	GM18951	blood:	n/a	n/a
28	CCNT2	chr15:76632649-76632846	K562	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
ENSG00000140374	Chromatin interaction
ENSG00000270036	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:120 , 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	chr15:76629400-76633400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr15:76629800-76632800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr15:76630200-76641800	Weak transcription	A549	lung
7	chr15:76630400-76636400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:76630600-76635600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:76631200-76633400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
10	chr15:76631400-76633600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
11	chr15:76631600-76633200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
12	chr15:76631600-76633600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
13	chr15:76631600-76634800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr15:76631600-76636400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:76631800-76632800	Weak transcription	Hela-S3	cervix
16	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
17	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
19	chr15:76631800-76634400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr15:76631800-76634400	Strong transcription	K562	blood
21	chr15:76631800-76635600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr15:76632000-76632800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:76632000-76632800	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr15:76632000-76632800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr15:76632000-76633200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr15:76632000-76633200	Active TSS	HSMM	muscle
27	chr15:76632000-76633400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
29	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
30	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
33	chr15:76632000-76634400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
37	chr15:76632000-76634600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr15:76632000-76634600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr15:76632200-76632800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:76632200-76632800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:76632200-76632800	Bivalent Enhancer	Fetal Heart	heart
42	chr15:76632200-76633000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr15:76632200-76633000	Flanking Active TSS	Gastric	stomach
44	chr15:76632200-76633000	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr15:76632200-76633200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:76632200-76633200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
47	chr15:76632200-76633200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr15:76632200-76633200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr15:76632200-76633200	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr15:76632200-76633400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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