Variant report

Variant	rs111922897
Chromosome Location	chr9:96927767-96927768
allele	A/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	chr9:96926954-96929565	NB4	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
2	ELF1	chr9:96927765-96929614	MCF-7	breast:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
3	ELF1	chr9:96927762-96928530	MCF-7	breast:	n/a	chr9:96928494-96928506
4	RCOR1	chr9:96927755-96929603	Hela-S3	cervix:	n/a	n/a
5	MYC	chr9:96927481-96929683	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
6	POLR2A	chr9:96927195-96930723	GM12891	blood:	n/a	n/a
7	REST	chr9:96927709-96929745	H1-neurons	neurons:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928588-96928601 chr9:96928118-96928131 chr9:96928201-96928214 chr9:96929437-96929444 chr9:96928591-96928604
8	HCFC1	chr9:96927547-96930818	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr9:96927576-96929645	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:96927561-96929947	K562	blood:	n/a	chr9:96928375-96928391
11	MXI1	chr9:96927604-96929899	GM12878	blood:	n/a	n/a
12	MAX	chr9:96927739-96929685	HepG2	liver:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
13	MXI1	chr9:96927530-96929674	HepG2	liver:	n/a	n/a
14	RCOR1	chr9:96927517-96929965	IMR90	lung:	n/a	n/a
15	NFIC	chr9:96927743-96928390	HepG2	liver:	n/a	n/a
16	REST	chr9:96927567-96929902	A549	lung:	n/a	chr9:96928201-96928214 chr9:96928114-96928134 chr9:96928588-96928601 chr9:96928118-96928131 chr9:96928201-96928214 chr9:96929437-96929444 chr9:96928591-96928604
17	POLR2A	chr9:96927597-96929865	K562	blood:	n/a	n/a
18	MYC	chr9:96927045-96929775	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
19	CHD2	chr9:96927715-96929581	H1-hESC	embryonic stem cell:	n/a	chr9:96928368-96928378 chr9:96928195-96928205
20	E2F6	chr9:96927712-96929670	A549	lung:	n/a	chr9:96928382-96928392 chr9:96929119-96929128 chr9:96928931-96928943 chr9:96928190-96928200 chr9:96928490-96928500 chr9:96928579-96928591 chr9:96929117-96929126 chr9:96929064-96929074 chr9:96928907-96928917
21	POLR2A	chr9:96927469-96931319	HepG2	liver:	n/a	n/a
22	MAX	chr9:96927756-96929640	MCF-7	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
23	PML	chr9:96927726-96929683	K562	blood:	n/a	n/a
24	MXI1	chr9:96927667-96931400	IMR90	lung:	n/a	n/a
25	TCF12	chr9:96927758-96929754	ECC-1	luminal epithelium:	n/a	n/a
26	JUN	chr9:96926810-96930763	K562	blood:	n/a	chr9:96929118-96929127 chr9:96929117-96929130 chr9:96928343-96928352 chr9:96928198-96928207 chr9:96928193-96928202
27	ELK4	chr9:96927433-96928416	Hela-S3	cervix:	n/a	n/a
28	RELA	chr9:96927650-96929578	GM18951	blood:	n/a	chr9:96928621-96928630 chr9:96928621-96928630
29	SP1	chr9:96927736-96929688	HCT-116	colon:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928992-96929006 chr9:96928960-96928972 chr9:96929485-96929498 chr9:96928882-96928891 chr9:96929352-96929366 chr9:96928881-96928892 chr9:96928881-96928893 chr9:96928961-96928970 chr9:96929356-96929365 chr9:96928882-96928892 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928992-96929001 chr9:96928960-96928972 chr9:96928195-96928207 chr9:96928881-96928893 chr9:96928997-96929011
30	HCFC1	chr9:96927611-96929643	K562	blood:	n/a	n/a
31	RCOR1	chr9:96927739-96929545	HepG2	liver:	n/a	n/a
32	USF2	chr9:96927689-96929447	GM12878	blood:	n/a	chr9:96928375-96928391 chr9:96928223-96928234
33	POLR2A	chr9:96927701-96929906	HepG2	liver:	n/a	n/a
34	MAX	chr9:96927656-96930023	A549	lung:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
35	CHD2	chr9:96927677-96929583	K562	blood:	n/a	chr9:96928368-96928378 chr9:96928195-96928205
36	TBL1XR1	chr9:96927669-96930574	K562	blood:	n/a	n/a
37	POLR2A	chr9:96927084-96929864	K562	blood:	n/a	n/a
38	POLR2A	chr9:96927572-96931237	K562	blood:	n/a	n/a
39	MAX	chr9:96927753-96929642	A549	lung:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
40	ZNF263	chr9:96927087-96929586	HEK293-T-REx	kidney:	n/a	n/a
41	SP1	chr9:96927759-96929565	A549	lung:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928992-96929006 chr9:96928960-96928972 chr9:96929485-96929498 chr9:96928882-96928891 chr9:96929352-96929366 chr9:96928881-96928892 chr9:96928881-96928893 chr9:96928961-96928970 chr9:96929356-96929365 chr9:96928882-96928892 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928992-96929001 chr9:96928960-96928972 chr9:96928195-96928207 chr9:96928881-96928893 chr9:96928997-96929011
42	POLR2A	chr9:96927081-96929893	K562	blood:	n/a	n/a
43	MAX	chr9:96927707-96929670	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
44	POLR2A	chr9:96927687-96930026	PBDE	blood:	n/a	n/a
45	ZNF384	chr9:96927565-96928213	K562	blood:	n/a	n/a
46	MAX	chr9:96927675-96929691	HepG2	liver:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
47	GABPA	chr9:96927758-96929727	K562	blood:	n/a	chr9:96928149-96928158 chr9:96928491-96928500
48	BHLHE40	chr9:96927543-96929793	GM12878	blood:	n/a	chr9:96928375-96928391
49	TCF12	chr9:96927502-96929870	A549	lung:	n/a	n/a
50	MAZ	chr9:96927692-96929742	IMR90	lung:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234

No.	Distal block	Cell Line	Cell type
1	chr9:96927010..96929542-chr9:97400485..97402088,2	MCF-7	breast:
2	chr9:96911236..96913938-chr9:96926952..96928493,2	MCF-7	breast:
3	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
4	chr9:96790341..96794271-chr9:96926817..96931236,5	K562	blood:
5	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
6	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
7	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
8	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
9	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
10	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
11	chr9:96905663..96907940-chr9:96926715..96928230,2	K562	blood:
12	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
13	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000165140	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000252723	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000166965	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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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 miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3435412	chr9:96924949-96935312	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3323629	chr9:96927556-96930104	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96919400-96927800	Weak transcription	Psoas Muscle	Psoas
2	chr9:96919600-96927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:96919600-96927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:96920000-96927800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:96920000-96927800	Weak transcription	Left Ventricle	heart
6	chr9:96920000-96927800	Weak transcription	Pancreas	Pancrea
7	chr9:96920000-96927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:96921800-96927800	Weak transcription	HSMM	muscle
9	chr9:96922200-96927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:96922200-96927800	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:96922200-96927800	Weak transcription	Fetal Lung	lung
12	chr9:96922400-96927800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:96922400-96927800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:96922400-96927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:96922400-96927800	Weak transcription	Placenta	Placenta
16	chr9:96922400-96927800	Weak transcription	NH-A	brain
17	chr9:96922600-96927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:96922600-96927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:96922800-96927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:96923200-96927800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:96923200-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:96923400-96927800	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:96924000-96927800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:96924200-96927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:96924600-96927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:96925000-96928000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:96926000-96927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:96926000-96927800	Weak transcription	Spleen	Spleen
29	chr9:96926000-96928400	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:96926800-96927800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr9:96926800-96927800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:96927000-96927800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:96927000-96927800	Enhancers	Primary B cells from cord blood	blood
34	chr9:96927000-96927800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:96927000-96928000	Enhancers	HepG2	liver
36	chr9:96927000-96928200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr9:96927000-96928200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:96927200-96927800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:96927200-96927800	Enhancers	Primary B cells from peripheral blood	blood
40	chr9:96927200-96927800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr9:96927200-96927800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr9:96927200-96927800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr9:96927200-96927800	Enhancers	Fetal Thymus	thymus
44	chr9:96927200-96927800	Enhancers	Thymus	Thymus
45	chr9:96927400-96927800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:96927400-96927800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:96927400-96927800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:96927400-96927800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:96927400-96927800	Enhancers	Brain Angular Gyrus	brain
50	chr9:96927400-96927800	Enhancers	Fetal Heart	heart

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