Variant report

Variant	rs565950248
Chromosome Location	chr9:136921129-136921130
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	CEBPB	chr9:136921037-136921313	IMR90	lung:	n/a	n/a
2	TFAP2C	chr9:136920850-136921943	Hela-S3	cervix:	n/a	n/a
3	MAX	chr9:136920728-136921702	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:136920937-136921526	Hela-S3	cervix:	n/a	n/a
5	MAX	chr9:136921028-136921569	SK-N-SH	brain:	n/a	n/a
6	MYC	chr9:136921103-136921402	MCF-7	breast:	n/a	n/a
7	STAT3	chr9:136921100-136921531	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr9:136921113-136921193	ProgFib	skin:	n/a	n/a
9	SMARCB1	chr9:136920750-136921766	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:136921110-136921558	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr9:136921089-136921667	Hela-S3	cervix:	n/a	n/a
12	MAX	chr9:136921034-136921633	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr9:136921022-136921538	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr9:136920305-136921745	IMR90	lung:	n/a	chr9:136921698-136921708
15	ZKSCAN1	chr9:136921124-136921362	Hela-S3	cervix:	n/a	n/a
16	MAX	chr9:136921029-136921648	A549	lung:	n/a	n/a
17	MXI1	chr9:136920734-136921677	IMR90	lung:	n/a	chr9:136920824-136920833 chr9:136921067-136921076
18	MYC	chr9:136921081-136921668	MCF10A-Er-Src	breast:	n/a	n/a
19	USF2	chr9:136921038-136921517	Hela-S3	cervix:	n/a	n/a
20	MAX	chr9:136920982-136921630	SK-N-SH	brain:	n/a	n/a
21	FOS	chr9:136921061-136921668	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:136921115-136921669	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr9:136920744-136921668	MCF10A-Er-Src	breast:	n/a	n/a
24	MAZ	chr9:136920943-136921532	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr9:136921088-136921614	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr9:136920973-136921526	Hela-S3	cervix:	n/a	n/a
27	MYC	chr9:136921010-136921716	Hela-S3	cervix:	n/a	chr9:136921698-136921708
28	SMC3	chr9:136921087-136921506	Hela-S3	cervix:	n/a	n/a
29	ZNF143	chr9:136921106-136921333	Hela-S3	cervix:	n/a	n/a
30	TFAP2A	chr9:136920785-136921932	Hela-S3	cervix:	n/a	chr9:136921671-136921682 chr9:136921671-136921682 chr9:136921209-136921219 chr9:136921670-136921682 chr9:136921207-136921221 chr9:136921671-136921682 chr9:136921671-136921682 chr9:136921209-136921219 chr9:136921209-136921219 chr9:136921209-136921219 chr9:136921375-136921390 chr9:136921207-136921219
31	MAX	chr9:136920991-136921689	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136919895..136922369-chr9:137000361..137002123,2	MCF-7	breast:
2	chr9:136904281..136909955-chr9:136916883..136922324,6	MCF-7	breast:
3	chr9:136891192..136895857-chr9:136919376..136921931,6	MCF-7	breast:

Variant related genes	Relation type
BRD3	TF binding region
ENSG00000169925	Chromatin interaction
ENSG00000196363	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000273249	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv894135	chr9:136839840-136927657	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv894139	chr9:136863932-136950691	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv894140	chr9:136865879-136927657	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv894141	chr9:136865879-136938961	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv466627	chr9:136870787-136938961	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv615774	chr9:136870787-136938961	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 target site	50 gene(s)	inside rSNPs	diseases
16	nsv894145	chr9:136874066-136925451	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv894146	chr9:136874066-136938961	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv894147	chr9:136874066-136950691	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
19	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
20	nsv894149	chr9:136874158-136950691	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	nsv894150	chr9:136887757-136944827	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
22	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
23	nsv466629	chr9:136893867-136938961	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
24	nsv615779	chr9:136893867-136938961	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
25	esv1806029	chr9:136906752-136933825	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv430110	chr9:136909280-136964450	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv894152	chr9:136921015-136950691	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136892000-136921200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:136892000-136922800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:136899200-136924600	Weak transcription	GM12878-XiMat	blood
4	chr9:136901600-136923600	Weak transcription	HUVEC	blood vessel
5	chr9:136903600-136927000	Strong transcription	Thymus	Thymus
6	chr9:136914600-136924200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:136914800-136923800	Weak transcription	Primary B cells from cord blood	blood
8	chr9:136915600-136925000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:136916600-136925000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:136917000-136930800	Weak transcription	K562	blood
11	chr9:136917800-136925600	Genic enhancers	Spleen	Spleen
12	chr9:136918000-136923600	Genic enhancers	Gastric	stomach
13	chr9:136918200-136929000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:136918200-136930800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:136918400-136921400	Weak transcription	Aorta	Aorta
16	chr9:136918400-136922000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:136918400-136922800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:136918400-136926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:136918400-136926800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:136918400-136927800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr9:136918600-136924600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:136918600-136930600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:136918800-136921600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:136918800-136923200	Enhancers	Liver	Liver
25	chr9:136918800-136925600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:136918800-136930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:136918800-136930800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:136919000-136921600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:136919000-136924000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:136919000-136925800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:136919000-136929000	Enhancers	Psoas Muscle	Psoas
32	chr9:136919200-136922800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:136919200-136928400	Enhancers	Pancreas	Pancrea
34	chr9:136919200-136930800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:136919400-136922600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:136919400-136924400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:136919400-136925000	Enhancers	Right Atrium	heart
38	chr9:136919400-136930600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:136919600-136923600	Enhancers	Lung	lung
40	chr9:136919600-136924800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr9:136919800-136921600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr9:136919800-136922200	Enhancers	Fetal Muscle Leg	muscle
43	chr9:136919800-136922400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:136919800-136927600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:136919800-136930800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:136920000-136921200	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:136920000-136921400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:136920000-136922200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:136920000-136922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:136920000-136922600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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