Variant report

Variant	rs144312637
Chromosome Location	chr9:96928266-96928267
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	USF1	chr9:96927820-96928706	K562	blood:	n/a	chr9:96928375-96928391 chr9:96928224-96928235
2	POLR2A	chr9:96927900-96929936	GM19099	blood:	n/a	n/a
3	CREB1	chr9:96927960-96929720	H1-hESC	embryonic stem cell:	n/a	chr9:96929116-96929129
4	POLR2A	chr9:96927959-96929554	ProgFib	skin:	n/a	n/a
5	POLR2A	chr9:96927828-96929895	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:96927963-96929054	HCT-116	colon:	n/a	n/a
7	TAF1	chr9:96928005-96929011	HepG2	liver:	n/a	n/a
8	TAF1	chr9:96927892-96929724	A549	lung:	n/a	n/a
9	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
10	SP1	chr9:96927932-96928691	HepG2	liver:	n/a	chr9:96928197-96928206 chr9:96928195-96928207 chr9:96928196-96928205 chr9:96928196-96928205 chr9:96928195-96928207
11	PBX3	chr9:96927837-96929611	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr9:96927972-96928309	HepG2	liver:	n/a	n/a
13	ELF1	chr9:96927765-96929614	MCF-7	breast:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
14	RFX5	chr9:96928006-96929861	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:96927977-96929591	HCT-116	colon:	n/a	n/a
16	ARID3A	chr9:96928165-96928645	K562	blood:	n/a	chr9:96928579-96928591
17	TEAD4	chr9:96928017-96928472	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOXA1	chr9:96928014-96928320	T-47D	breast:	n/a	n/a
19	ELF1	chr9:96927762-96928530	MCF-7	breast:	n/a	chr9:96928494-96928506
20	POLR2A	chr9:96927948-96929737	Hela-S3	cervix:	n/a	n/a
21	SETDB1	chr9:96927991-96929333	K562	blood:	n/a	n/a
22	POLR2A	chr9:96927899-96929674	NB4	blood:	n/a	n/a
23	SP2	chr9:96928120-96928611	K562	blood:	n/a	chr9:96928340-96928355 chr9:96928367-96928382
24	FOS	chr9:96928153-96928507	MCF10A-Er-Src	breast:	n/a	chr9:96928343-96928352 chr9:96928198-96928207 chr9:96928193-96928202
25	ELK1	chr9:96928026-96929611	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr9:96927755-96929603	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr9:96927852-96929673	GM12892	blood:	n/a	n/a
28	POLR2A	chr9:96927953-96929619	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr9:96927952-96930321	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr9:96928253-96929496	GM12878	blood:	n/a	n/a
31	ELF1	chr9:96927821-96929612	GM12878	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
32	POLR2A	chr9:96927871-96929884	U87	brain:	n/a	n/a
33	ZNF143	chr9:96927895-96929524	H1-hESC	embryonic stem cell:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944
34	ELF1	chr9:96927949-96929509	K562	blood:	n/a	chr9:96928724-96928733 chr9:96928596-96928605 chr9:96928678-96928687 chr9:96928494-96928506
35	BACH1	chr9:96928179-96928374	K562	blood:	n/a	n/a
36	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
37	POLR2A	chr9:96927910-96929888	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr9:96927842-96929696	HepG2	liver:	n/a	chr9:96928898-96928913 chr9:96929119-96929128 chr9:96928488-96928503 chr9:96928516-96928531 chr9:96929117-96929126
39	POLR2A	chr9:96927195-96930723	GM12891	blood:	n/a	n/a
40	POLR2A	chr9:96927929-96929603	Gliobla	brain:	n/a	n/a
41	MYC	chr9:96927972-96929846	MCF10A-Er-Src	breast:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
42	FOS	chr9:96928114-96928538	MCF10A-Er-Src	breast:	n/a	chr9:96928343-96928352 chr9:96928198-96928207 chr9:96928193-96928202
43	RFX5	chr9:96928055-96928505	K562	blood:	n/a	n/a
44	POLR2A	chr9:96927921-96929720	GM12891	blood:	n/a	n/a
45	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
46	HDAC2	chr9:96927865-96929770	MCF-7	breast:	n/a	chr9:96928652-96928661
47	MYC	chr9:96927925-96929540	K562	blood:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
48	MAZ	chr9:96927954-96929727	HepG2	liver:	n/a	chr9:96928223-96928236 chr9:96928225-96928234 chr9:96928224-96928235 chr9:96928893-96928902 chr9:96928955-96928965 chr9:96928225-96928234
49	RFX5	chr9:96927981-96928649	GM12878	blood:	n/a	n/a
50	ZNF143	chr9:96927800-96929548	K562	blood:	n/a	chr9:96929269-96929287 chr9:96929064-96929074 chr9:96928784-96928802 chr9:96928490-96928500 chr9:96928193-96928211 chr9:96928926-96928944

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:96928252-96928302	HAEpiC	amniotic membrane:	n/a
2	chr9:96928252-96928302	SKMC	muscle:	n/a
3	chr9:96928252-96928302	NH-A	brain:	n/a
4	chr9:96928252-96928302	MCF10A-Er-Src	breast:	n/a
5	chr9:96928252-96928302	T-47D	breast:	n/a
6	chr9:96928252-96928302	HL-60	blood:	n/a
7	chr9:96928252-96928302	Hepatocyte	liver:	n/a
8	chr9:96928252-96928302	PANC-1	pancreas:	n/a
9	chr9:96928252-96928302	HCPEpiC	choroid plexus:	n/a
10	chr9:96928252-96928302	HNPCEpiC	eye:	n/a
11	chr9:96928252-96928302	HEEpiC	esophagus:	n/a
12	chr9:96928252-96928302	GM19239	blood:	n/a
13	chr9:96928252-96928302	HRCEpiC	kidney:	n/a
14	chr9:96928252-96928302	LNCaP	prostate:	n/a
15	chr9:96928252-96928302	HIPEpiC	eye:	n/a
16	chr9:96928252-96928302	H1-hESC	embryonic stem cell:	embryo
17	chr9:96928252-96928302	ECC-1	luminal epithelium:	n/a
18	chr9:96928252-96928302	Jurkat	blood:	n/a
19	chr9:96928252-96928302	CMK	blood:	n/a
20	chr9:96928252-96928302	NB4	blood:	n/a
21	chr9:96928252-96928302	HCT-116	colon:	n/a
22	chr9:96928252-96928302	NHBE	bronchial:	n/a
23	chr9:96928252-96928302	AG09309	skin:	n/a
24	chr9:96928252-96928302	AG10803	skin:	n/a
25	chr9:96928252-96928302	GM12891	blood:	n/a
26	chr9:96928252-96928302	HCM	heart:	n/a
27	chr9:96928252-96928302	ovcar-3	ovarian:	n/a
28	chr9:96928252-96928302	SK-N-SH_RA	brain:	n/a
29	chr9:96928252-96928302	PFSK-1	brain:	n/a
30	chr9:96928252-96928302	HRPEpiC	eye:	n/a
31	chr9:96928252-96928302	A549	lung:	n/a
32	chr9:96928252-96928302	SK-N-SH	brain:	n/a
33	chr9:96928252-96928302	HEK293	kidney:	embryo
34	chr9:96928252-96928302	SAEC	small airway:	n/a
35	chr9:96928252-96928302	HRE	kidney:	n/a
36	chr9:96928252-96928302	Caco-2	colon:	n/a
37	chr9:96928252-96928302	BE2_C	brain:	n/a
38	chr9:96928252-96928302	RPTEC	kidney:	n/a
39	chr9:96928252-96928302	U87	brain:	n/a
40	chr9:96928252-96928302	AG04449	skin:	fetal
41	chr9:96928252-96928302	HMEC	breast:	n/a
42	chr9:96928252-96928302	ProgFib	skin:	n/a
43	chr9:96928252-96928302	HUVEC	blood vessel:	n/a
44	chr9:96928252-96928302	Hela-S3	cervix:	n/a
45	chr9:96928252-96928302	AoSMC	blood vessel:	n/a
46	chr9:96928252-96928302	AG09319	gingival:	n/a
47	chr9:96928252-96928302	MCF-7	breast:	n/a
48	chr9:96928252-96928302	K562	blood:	n/a
49	chr9:96928252-96928302	GM06990	blood:	n/a
50	chr9:96928252-96928302	AG04450	lung:	fetal

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	chr9:34328775..34329333-chr9:96928109..96928991,2	Hela-S3	cervix:
6	chr9:96791956..96794354-chr9:96926207..96931491,6	MCF-7	breast:
7	chr15:91497959..91498724-chr9:96927748..96928648,2	Hela-S3	cervix:
8	chr9:96790823..96795467-chr9:96925835..96932235,7	K562	blood:
9	chr9:96845151..96850974-chr9:96927067..96931575,8	K562	blood:
10	chr14:20937169..20937695-chr9:96928145..96928840,2	Hela-S3	cervix:
11	chr9:96861428..96863422-chr9:96927160..96928732,2	MCF-7	breast:
12	chr9:96927406..96930148-chr9:97007636..97010398,2	MCF-7	breast:
13	chr9:96792323..96794528-chr9:96927672..96930924,4	MCF-7	breast:
14	chr9:96845151..96851769-chr9:96927067..96931565,10	K562	blood:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000269946	CpG island
ENSG00000186638	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000158079	Chromatin interaction
ENSG00000258384	Chromatin interaction
ENSG00000252723	Chromatin interaction
ENSG00000165140	Chromatin interaction
ENSG00000197724	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96926000-96928400	Enhancers	Primary hematopoietic stem cells	blood
2	chr9:96927400-96929200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:96927800-96928400	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr9:96927800-96928800	Active TSS	Brain Germinal Matrix	brain
5	chr9:96927800-96929600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:96927800-96929600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr9:96927800-96929800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:96927800-96929800	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr9:96927800-96929800	Active TSS	Brain Anterior Caudate	brain
10	chr9:96927800-96929800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:96927800-96929800	Active TSS	Lung	lung
12	chr9:96927800-96930000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:96927800-96930000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:96927800-96930000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:96927800-96930000	Active TSS	Osteobl	bone
16	chr9:96927800-96930200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:96927800-96930400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr9:96927800-96930400	Active TSS	Fetal Brain Female	brain
19	chr9:96927800-96930400	Active TSS	Stomach Smooth Muscle	stomach
20	chr9:96927800-96930800	Active TSS	Colonic Mucosa	Colon
21	chr9:96927800-96930800	Active TSS	NHLF	lung
22	chr9:96927800-96931000	Active TSS	Fetal Kidney	kidney
23	chr9:96927800-96931200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:96927800-96931400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr9:96927800-96931600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:96927800-96931600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr9:96927800-96931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr9:96927800-96932200	Active TSS	HSMMtube	muscle
29	chr9:96927800-96932600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr9:96927800-96932600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:96927800-96932800	Active TSS	Aorta	Aorta
32	chr9:96927800-96933200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:96928000-96928400	Weak transcription	Spleen	Spleen
34	chr9:96928000-96928600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:96928000-96928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:96928000-96929600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:96928000-96929600	Active TSS	Gastric	stomach
38	chr9:96928000-96929800	Active TSS	Brain Hippocampus Middle	brain
39	chr9:96928000-96929800	Active TSS	Esophagus	oesophagus
40	chr9:96928000-96929800	Active TSS	Pancreas	Pancrea
41	chr9:96928000-96930200	Active TSS	Brain Cingulate Gyrus	brain
42	chr9:96928000-96930200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr9:96928000-96930400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:96928000-96930400	Active TSS	Colon Smooth Muscle	Colon
45	chr9:96928000-96930400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr9:96928000-96930400	Active TSS	Small Intestine	intestine
47	chr9:96928000-96930600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr9:96928000-96930800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:96928000-96930800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:96928000-96930800	Active TSS	Duodenum Mucosa	Duodenum

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