Variant report

Variant	rs75391472
Chromosome Location	chr9:95857466-95857467
allele	A/C
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	POLR2A	chr9:95856759-95858016	GM12892	blood:	n/a	n/a
2	POLR2A	chr9:95856331-95857908	K562	blood:	n/a	n/a
3	SP1	chr9:95857387-95858669	A549	lung:	n/a	chr9:95858210-95858220 chr9:95858424-95858433 chr9:95858210-95858219 chr9:95858404-95858414 chr9:95858227-95858239 chr9:95858440-95858452 chr9:95858404-95858414 chr9:95858339-95858351 chr9:95858095-95858104 chr9:95858142-95858151 chr9:95858400-95858414 chr9:95858209-95858221 chr9:95858211-95858220 chr9:95858141-95858151 chr9:95858423-95858434 chr9:95858274-95858284 chr9:95857789-95857800 chr9:95858140-95858152 chr9:95858141-95858150 chr9:95858158-95858170 chr9:95858341-95858350 chr9:95858094-95858103 chr9:95858405-95858414 chr9:95858274-95858284 chr9:95858159-95858169 chr9:95858142-95858151 chr9:95858339-95858351 chr9:95858095-95858104 chr9:95858141-95858151 chr9:95858403-95858414 chr9:95858211-95858220 chr9:95858273-95858285 chr9:95858274-95858283 chr9:95858210-95858220 chr9:95858158-95858170 chr9:95858423-95858435 chr9:95858425-95858434 chr9:95858094-95858104 chr9:95858440-95858451 chr9:95858209-95858221 chr9:95858275-95858284 chr9:95858270-95858284 chr9:95858424-95858434 chr9:95858273-95858285 chr9:95858159-95858169 chr9:95858403-95858415 chr9:95858420-95858434 chr9:95858090-95858104 chr9:95858094-95858104 chr9:95858229-95858238 chr9:95858423-95858435 chr9:95858359-95858370 chr9:95858160-95858169 chr9:95858359-95858371 chr9:95857911-95857920 chr9:95858227-95858239 chr9:95858425-95858434 chr9:95858424-95858434 chr9:95858404-95858413 chr9:95858159-95858168 chr9:95858155-95858169 chr9:95858405-95858414 chr9:95858403-95858415 chr9:95858340-95858349 chr9:95858093-95858105 chr9:95858137-95858151 chr9:95858336-95858350 chr9:95858160-95858169 chr9:95858442-95858451 chr9:95858093-95858105 chr9:95857874-95857885 chr9:95858140-95858152 chr9:95858275-95858284 chr9:95858206-95858220
4	POLR2A	chr9:95856452-95858145	GM12892	blood:	n/a	n/a
5	TAF1	chr9:95857296-95858044	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr9:95857350-95858219	U87	brain:	n/a	n/a
7	PML	chr9:95856855-95858128	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:95857084-95857972	K562	blood:	n/a	n/a
9	POLR2A	chr9:95857294-95858042	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:95857454-95858114	A549	lung:	n/a	n/a
11	POLR2A	chr9:95857461-95858010	HepG2	liver:	n/a	n/a
12	IRF1	chr9:95857349-95858725	K562	blood:	n/a	chr9:95858209-95858223 chr9:95858403-95858417 chr9:95858423-95858437 chr9:95858158-95858172 chr9:95858339-95858353 chr9:95858093-95858107 chr9:95858273-95858287 chr9:95857874-95857888 chr9:95858140-95858154
13	POLR2A	chr9:95856924-95858075	HepG2	liver:	n/a	n/a
14	EP300	chr9:95856989-95858019	GM12878	blood:	n/a	chr9:95857125-95857141
15	RCOR1	chr9:95856792-95858032	GM12878	blood:	n/a	n/a
16	TAF1	chr9:95857433-95857874	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr9:95857444-95858536	K562	blood:	n/a	chr9:95858163-95858175
18	MAZ	chr9:95856950-95859166	GM12878	blood:	n/a	chr9:95857476-95857486 chr9:95858208-95858218 chr9:95858272-95858282 chr9:95858894-95858904
19	ELK1	chr9:95857012-95858255	GM12878	blood:	n/a	n/a
20	CBX3	chr9:95857397-95858124	K562	blood:	n/a	n/a
21	MAX	chr9:95857464-95858175	ECC-1	luminal epithelium:	n/a	chr9:95857476-95857486
22	POLR2A	chr9:95856565-95858072	GM12892	blood:	n/a	n/a
23	SMC3	chr9:95857027-95857732	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:95856591-95859009	GM15510	blood:	n/a	n/a
25	ELF1	chr9:95856866-95858534	GM12878	blood:	n/a	chr9:95858163-95858175 chr9:95857211-95857224
26	ZEB1	chr9:95857328-95858044	GM12878	blood:	n/a	n/a
27	MAX	chr9:95857059-95858054	GM12878	blood:	n/a	chr9:95857476-95857486
28	POLR2A	chr9:95857019-95858057	HepG2	liver:	n/a	n/a
29	NFIC	chr9:95856694-95857936	GM12878	blood:	n/a	n/a
30	TBP	chr9:95857017-95858664	K562	blood:	n/a	n/a
31	GABPA	chr9:95857455-95858604	MCF-7	breast:	n/a	chr9:95857892-95857901 chr9:95858210-95858219 chr9:95858274-95858283 chr9:95858393-95858402 chr9:95857845-95857854 chr9:95858141-95858150 chr9:95858424-95858433
32	MTA3	chr9:95856418-95857806	GM12878	blood:	n/a	n/a
33	YY1	chr9:95857445-95858211	HepG2	liver:	n/a	chr9:95858141-95858150
34	POLR2A	chr9:95857353-95858130	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr9:95856431-95858781	GM19099	blood:	n/a	n/a
36	CREB1	chr9:95857183-95859262	HepG2	liver:	n/a	n/a
37	POLR2A	chr9:95856779-95858067	SK-N-MC	brain:	n/a	n/a
38	ESRRA	chr9:95856588-95859429	GM12878	blood:	n/a	chr9:95858752-95858764 chr9:95858752-95858762 chr9:95859336-95859355 chr9:95858748-95858764 chr9:95858744-95858763 chr9:95857976-95857989 chr9:95856813-95856827
39	POLR2A	chr9:95856924-95858006	K562	blood:	n/a	n/a
40	POLR2A	chr9:95857432-95858067	HepG2	liver:	n/a	n/a
41	MYC	chr9:95857042-95858160	NB4	blood:	n/a	chr9:95857476-95857486
42	MAX	chr9:95857340-95858223	A549	lung:	n/a	chr9:95857476-95857486 chr9:95858208-95858218
43	STAT5A	chr9:95856828-95857805	GM12878	blood:	n/a	chr9:95857476-95857488 chr9:95857140-95857152 chr9:95857152-95857163
44	RUNX3	chr9:95856666-95858017	GM12878	blood:	n/a	n/a
45	HEY1	chr9:95856703-95858011	K562	blood:	n/a	chr9:95857950-95857965
46	SPI1	chr9:95856846-95857553	HL-60	blood:	n/a	chr9:95857149-95857156 chr9:95857145-95857158
47	SPI1	chr9:95856582-95857640	GM12878	blood:	n/a	chr9:95857149-95857156 chr9:95857145-95857158
48	POLR2A	chr9:95857356-95858213	U87	brain:	n/a	n/a
49	NR2F2	chr9:95857462-95857762	K562	blood:	n/a	n/a
50	ZBTB7A	chr9:95857456-95858141	K562	blood:	n/a	chr9:95858093-95858100

No.	Distal block	Cell Line	Cell type
1	chr9:95832455..95836206-chr9:95854622..95857563,3	K562	blood:
2	chr9:95819533..95824260-chr9:95855982..95859349,6	K562	blood:
3	chr9:95855712..95863110-chr9:95867626..95874665,14	K562	blood:
4	chr9:95782411..95784335-chr9:95855706..95857608,2	K562	blood:
5	chr9:95856307..95858930-chr9:95945344..95947454,2	MCF-7	breast:
6	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:
7	chr9:95644477..95647026-chr9:95856409..95858869,2	MCF-7	breast:
8	chr9:95856094..95858375-chr9:96337008..96340445,3	MCF-7	breast:
9	chr9:95819521..95827100-chr9:95855273..95859349,14	K562	blood:
10	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
11	chr9:95856977..95859126-chr9:95888088..95890598,2	MCF-7	breast:
12	chr9:95856800..95859803-chr9:96212504..96215667,3	MCF-7	breast:
13	chr9:95857275..95859572-chr9:95888374..95892185,3	MCF-7	breast:
14	chr9:95855064..95861522-chr9:95867449..95872462,10	MCF-7	breast:
15	chr9:95855552..95862102-chr9:95867626..95876894,17	K562	blood:
16	chr20:52231451..52233410-chr9:95855807..95857476,2	MCF-7	breast:
17	chr9:95818697..95822651-chr9:95855885..95860349,6	MCF-7	breast:
18	chr22:39715499..39716297-chr9:95857044..95857925,2	Hela-S3	cervix:
19	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:

Variant related genes	Relation type
C9orf89	TF binding region
ENSG00000165233	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000226668	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription 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	17 gene(s)	inside rSNPs	diseases
7	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
8	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv3438320	chr9:95856656-95859504	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv3346305	chr9:95857306-95859804	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3441183	chr9:95857356-95859904	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95854600-95857800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr9:95854800-95857800	Enhancers	Fetal Heart	heart
3	chr9:95855200-95857800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr9:95855400-95857800	Flanking Active TSS	GM12878-XiMat	blood
5	chr9:95855600-95857800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:95856800-95857800	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr9:95857000-95857600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:95857000-95857600	Flanking Active TSS	Colonic Mucosa	Colon
9	chr9:95857000-95857600	Flanking Active TSS	Hela-S3	cervix
10	chr9:95857000-95857600	Flanking Active TSS	K562	blood
11	chr9:95857000-95857800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr9:95857000-95857800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr9:95857000-95857800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:95857000-95857800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:95857000-95857800	Enhancers	Fetal Brain Male	brain
16	chr9:95857000-95857800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr9:95857000-95857800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr9:95857000-95859200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:95857200-95857600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr9:95857200-95857600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:95857200-95857600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr9:95857200-95857600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr9:95857200-95857600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr9:95857200-95857600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:95857200-95857600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr9:95857200-95857600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr9:95857200-95857600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr9:95857200-95857600	Flanking Active TSS	Fetal Kidney	kidney
29	chr9:95857200-95857600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr9:95857200-95857600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr9:95857200-95857600	Enhancers	Small Intestine	intestine
32	chr9:95857200-95857600	Flanking Active TSS	Thymus	Thymus
33	chr9:95857200-95857600	Flanking Active TSS	A549	lung
34	chr9:95857200-95857800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:95857200-95857800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr9:95857200-95857800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr9:95857200-95857800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr9:95857200-95857800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr9:95857200-95857800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr9:95857200-95857800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr9:95857200-95857800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr9:95857200-95857800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:95857200-95857800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:95857200-95857800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr9:95857200-95857800	Flanking Active TSS	Dnd41	blood
46	chr9:95857200-95859000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr9:95857200-95859000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr9:95857200-95859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr9:95857200-95859200	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:95857200-95859400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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