Variant report

Variant	rs7033797
Chromosome Location	chr9:100955067-100955068
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	POLR2A	chr9:100954787-100955472	Gliobla	brain:	n/a	n/a
2	HCFC1	chr9:100954985-100955742	K562	blood:	n/a	n/a
3	IRF1	chr9:100954983-100955711	K562	blood:	n/a	n/a
4	CBX3	chr9:100955016-100955978	K562	blood:	n/a	n/a
5	CTCF	chr9:100955040-100955190	HUVEC	blood vessel:	n/a	chr9:100955156-100955165
6	POLR2A	chr9:100954867-100955647	HL-60	blood:	n/a	n/a
7	USF1	chr9:100954941-100955202	A549	lung:	n/a	n/a
8	MAX	chr9:100954917-100955649	GM12878	blood:	n/a	chr9:100955100-100955110
9	POLR2A	chr9:100954256-100955874	HepG2	liver:	n/a	n/a
10	YY1	chr9:100954850-100955292	H1-hESC	embryonic stem cell:	n/a	chr9:100954869-100954880 chr9:100954868-100954877 chr9:100954871-100954880 chr9:100954856-100954870
11	BHLHE40	chr9:100954920-100955304	GM12878	blood:	n/a	n/a
12	MYC	chr9:100954479-100955722	K562	blood:	n/a	chr9:100955100-100955110
13	MYC	chr9:100954511-100955757	K562	blood:	n/a	chr9:100955100-100955110
14	SMARCB1	chr9:100953772-100955837	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:100955017-100955637	K562	blood:	n/a	n/a
16	CTCF	chr9:100955020-100955170	GM12875	blood:	n/a	chr9:100955156-100955165
17	YY1	chr9:100954783-100955606	ECC-1	luminal epithelium:	n/a	chr9:100954869-100954880 chr9:100954811-100954825 chr9:100954868-100954877 chr9:100954817-100954831 chr9:100954849-100954869 chr9:100954871-100954880 chr9:100954856-100954870
18	IRF1	chr9:100954711-100955708	K562	blood:	n/a	n/a
19	POLR2A	chr9:100954992-100955376	HepG2	liver:	n/a	n/a
20	CTCF	chr9:100955060-100955235	Pancreas_OC	pancreas:	n/a	chr9:100955156-100955165
21	REST	chr9:100954779-100956064	H1-neurons	neurons:	n/a	chr9:100955067-100955080 chr9:100955422-100955435
22	MYC	chr9:100955053-100955545	H1-hESC	embryonic stem cell:	n/a	chr9:100955100-100955110
23	RCOR1	chr9:100954981-100955697	K562	blood:	n/a	n/a
24	MXI1	chr9:100955010-100955678	Hela-S3	cervix:	n/a	n/a
25	HNF4A	chr9:100954833-100955573	HepG2	liver:	n/a	n/a
26	MYC	chr9:100955064-100955237	MCF-7	breast:	n/a	chr9:100955100-100955110
27	BHLHE40	chr9:100954758-100955708	HepG2	liver:	n/a	chr9:100954862-100954878 chr9:100954854-100954870 chr9:100954811-100954827
28	CTCF	chr9:100955020-100955170	RPTEC	kidney:	n/a	chr9:100955156-100955165
29	USF1	chr9:100954953-100955227	SK-N-SH_RA	brain:	n/a	n/a
30	E2F6	chr9:100954728-100955429	K562	blood:	n/a	chr9:100954869-100954879 chr9:100955040-100955052
31	MAX	chr9:100953892-100955749	K562	blood:	n/a	chr9:100955100-100955110
32	MAX	chr9:100953607-100955775	HepG2	liver:	n/a	chr9:100955100-100955110
33	EGR1	chr9:100954854-100955154	GM12878	blood:	n/a	chr9:100955044-100955054 chr9:100955044-100955057
34	CTCF	chr9:100955024-100955223	HepG2	liver:	n/a	chr9:100955156-100955165
35	NR2F2	chr9:100954723-100955790	MCF-7	breast:	n/a	n/a
36	POLR2A	chr9:100954757-100955621	K562	blood:	n/a	n/a
37	ELF1	chr9:100954144-100955679	GM12878	blood:	n/a	chr9:100954871-100954880 chr9:100954863-100954875 chr9:100954817-100954826 chr9:100954868-100954877
38	SIN3AK20	chr9:100954793-100955090	PANC-1	pancreas:	n/a	n/a
39	TBP	chr9:100954784-100955712	K562	blood:	n/a	n/a
40	TAF1	chr9:100954774-100955318	K562	blood:	n/a	n/a
41	RCOR1	chr9:100955000-100955697	Hela-S3	cervix:	n/a	n/a
42	TCF7L2	chr9:100954642-100955559	HCT-116	colon:	n/a	n/a
43	MXI1	chr9:100953878-100956313	IMR90	lung:	n/a	n/a
44	MAZ	chr9:100954364-100955657	HepG2	liver:	n/a	chr9:100955100-100955110
45	RUNX3	chr9:100954947-100955769	GM12878	blood:	n/a	n/a
46	NR2F2	chr9:100954955-100955850	K562	blood:	n/a	n/a
47	CTBP2	chr9:100953472-100955655	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELF1	chr9:100954927-100955218	HepG2	liver:	n/a	n/a
49	POLR2A	chr9:100955000-100955864	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr9:100955030-100955264	K562	blood:	n/a	chr9:100955156-100955165

No.	Distal block	Cell Line	Cell type
1	chr9:100955047..100955608-chr9:101537847..101538588,2	K562	blood:
2	chr9:100883473..100884060-chr9:100955051..100955908,2	MCF-7	breast:
3	chr9:100954775..100957184-chr9:101014893..101018488,3	K562	blood:
4	chr9:100817834..100821135-chr9:100954026..100958556,6	MCF-7	breast:
5	chr9:100952914..100958060-chr9:101016344..101019894,9	MCF-7	breast:
6	chr9:100880793..100881841-chr9:100954446..100955221,3	MCF-7	breast:
7	chr19:39897006..39897650-chr9:100954646..100955312,2	Hela-S3	cervix:
8	chr9:100881034..100881597-chr9:100954968..100955628,2	Hela-S3	cervix:
9	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
10	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
11	chr9:100880445..100882322-chr9:100953652..100955695,2	K562	blood:
12	chr9:100880288..100886270-chr9:100953608..100957100,8	MCF-7	breast:
13	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
14	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
15	chr9:100877974..100882322-chr9:100953652..100957621,5	K562	blood:

Variant related genes	Relation type
CORO2A	TF binding region
ENSG00000106785	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12001270	0.82[EUR][1000 genomes]
rs12344498	0.90[EUR][1000 genomes]
rs12344678	0.87[EUR][1000 genomes]
rs12349129	0.90[EUR][1000 genomes]
rs12349172	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16913609	0.84[EUR][1000 genomes]
rs28635946	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55710345	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56350443	0.82[EUR][1000 genomes]
rs56675709	0.82[EUR][1000 genomes]
rs57756870	0.82[EUR][1000 genomes]
rs57761120	0.84[EUR][1000 genomes]
rs58302299	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58653026	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58762276	0.84[EUR][1000 genomes]
rs60887768	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73498781	0.82[EUR][1000 genomes]
rs73498784	0.82[EUR][1000 genomes]
rs73503038	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73657117	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3415002	chr9:100953931-100956079	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr9:100953200-100955400	Active TSS	Esophagus	oesophagus
2	chr9:100953200-100955600	Active TSS	Gastric	stomach
3	chr9:100953600-100955400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:100953600-100955600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:100953600-100955800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:100953600-100955800	Active TSS	Rectal Smooth Muscle	rectum
7	chr9:100953800-100955400	Active TSS	Fetal Intestine Small	intestine
8	chr9:100953800-100955800	Flanking Active TSS	HMEC	breast
9	chr9:100953800-100956000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr9:100954000-100955400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:100954000-100955400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr9:100954000-100955600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr9:100954000-100955600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr9:100954000-100955600	Active TSS	Stomach Mucosa	stomach
15	chr9:100954000-100955600	Active TSS	A549	lung
16	chr9:100954000-100955800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr9:100954000-100955800	Active TSS	Right Ventricle	heart
18	chr9:100954000-100956000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:100954000-100956000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:100954000-100956000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:100954200-100955200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:100954200-100955400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:100954200-100955400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:100954200-100955400	Active TSS	Duodenum Mucosa	Duodenum
25	chr9:100954200-100955400	Active TSS	Osteobl	bone
26	chr9:100954200-100955600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:100954200-100955600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr9:100954200-100955600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:100954200-100955600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:100954200-100955600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:100954200-100955600	Active TSS	Hela-S3	cervix
32	chr9:100954200-100955600	Active TSS	HepG2	liver
33	chr9:100954200-100955600	Active TSS	HSMM	muscle
34	chr9:100954200-100955600	Active TSS	NHEK	skin
35	chr9:100954200-100955800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:100954200-100955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:100954200-100955800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr9:100954200-100955800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:100954200-100955800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:100954200-100955800	Active TSS	Small Intestine	intestine
41	chr9:100954200-100956000	Active TSS	Primary T cells from cord blood	blood
42	chr9:100954400-100955200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:100954400-100955200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:100954400-100955400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:100954400-100955400	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr9:100954400-100955400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr9:100954400-100955400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr9:100954400-100955400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr9:100954400-100955400	Active TSS	Colon Smooth Muscle	Colon
50	chr9:100954400-100955400	Active TSS	Psoas Muscle	Psoas

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