Variant report

Variant	rs545593276
Chromosome Location	chr9:100955520-100955521
allele	C/T
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	CTCF	chr9:100955329-100955589	HepG2	liver:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
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	POLR2A	chr9:100954867-100955647	HL-60	blood:	n/a	n/a
6	RAD21	chr9:100955267-100955734	H1-hESC	embryonic stem cell:	n/a	chr9:100955485-100955504
7	MAX	chr9:100954917-100955649	GM12878	blood:	n/a	chr9:100955100-100955110
8	CTCF	chr9:100955420-100955570	HA-sp	spinal cord:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
9	POLR2A	chr9:100954256-100955874	HepG2	liver:	n/a	n/a
10	MYC	chr9:100954479-100955722	K562	blood:	n/a	chr9:100955100-100955110
11	E2F4	chr9:100955325-100955813	MCF10A-Er-Src	breast:	n/a	n/a
12	YY1	chr9:100955308-100955581	HCT-116	colon:	n/a	n/a
13	CTCF	chr9:100955366-100955604	H1-hESC	embryonic stem cell:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
14	RAD21	chr9:100955316-100955693	Hela-S3	cervix:	n/a	chr9:100955485-100955504
15	CTCF	chr9:100955411-100955545	GM13976	blood:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
16	MYC	chr9:100954511-100955757	K562	blood:	n/a	chr9:100955100-100955110
17	CTCF	chr9:100955440-100955590	AG04450	lung:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
18	SMARCB1	chr9:100953772-100955837	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr9:100955409-100955583	HepG2	liver:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
20	POLR2A	chr9:100955017-100955637	K562	blood:	n/a	n/a
21	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
22	IRF1	chr9:100954711-100955708	K562	blood:	n/a	n/a
23	REST	chr9:100954779-100956064	H1-neurons	neurons:	n/a	chr9:100955067-100955080 chr9:100955422-100955435
24	MYC	chr9:100955053-100955545	H1-hESC	embryonic stem cell:	n/a	chr9:100955100-100955110
25	RCOR1	chr9:100954981-100955697	K562	blood:	n/a	n/a
26	MXI1	chr9:100955010-100955678	Hela-S3	cervix:	n/a	n/a
27	HNF4A	chr9:100954833-100955573	HepG2	liver:	n/a	n/a
28	BHLHE40	chr9:100954758-100955708	HepG2	liver:	n/a	chr9:100954862-100954878 chr9:100954854-100954870 chr9:100954811-100954827
29	CTCF	chr9:100955380-100955530	HepG2	liver:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
30	CTCF	chr9:100955300-100955618	H1-hESC	embryonic stem cell:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
31	CTCF	chr9:100955420-100955570	GM12874	blood:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
32	CTCF	chr9:100955336-100955642	Fibrobl	skin:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
33	RAD21	chr9:100955174-100955659	A549	lung:	n/a	chr9:100955485-100955504
34	CTCF	chr9:100955420-100955570	HBMEC	blood vessel:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
35	MAX	chr9:100953892-100955749	K562	blood:	n/a	chr9:100955100-100955110
36	MAX	chr9:100953607-100955775	HepG2	liver:	n/a	chr9:100955100-100955110
37	ZBTB7A	chr9:100955239-100955593	K562	blood:	n/a	n/a
38	NR2F2	chr9:100954723-100955790	MCF-7	breast:	n/a	n/a
39	POLR2A	chr9:100954757-100955621	K562	blood:	n/a	n/a
40	ELF1	chr9:100954144-100955679	GM12878	blood:	n/a	chr9:100954871-100954880 chr9:100954863-100954875 chr9:100954817-100954826 chr9:100954868-100954877
41	TBP	chr9:100954784-100955712	K562	blood:	n/a	n/a
42	CTCF	chr9:100955400-100955550	HCFaa	heart:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
43	BCLAF1	chr9:100955196-100955714	GM12878	blood:	n/a	n/a
44	TCF12	chr9:100955168-100955725	A549	lung:	n/a	n/a
45	RCOR1	chr9:100955000-100955697	Hela-S3	cervix:	n/a	n/a
46	TCF7L2	chr9:100954642-100955559	HCT-116	colon:	n/a	n/a
47	MXI1	chr9:100953878-100956313	IMR90	lung:	n/a	n/a
48	RAD21	chr9:100955200-100955781	ECC-1	luminal epithelium:	n/a	chr9:100955485-100955504
49	RAD21	chr9:100955106-100955701	HepG2	liver:	n/a	chr9:100955156-100955170 chr9:100955485-100955504 chr9:100955155-100955169
50	ZNF143	chr9:100955240-100955962	K562	blood:	n/a	chr9:100955493-100955503

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	chr9:100933577..100935693-chr9:100955515..100957092,2	MCF-7	breast:
6	chr9:100952914..100958060-chr9:101016344..101019894,9	MCF-7	breast:
7	chr9:100881017..100881835-chr9:100955114..100955851,2	MCF-7	breast:
8	chr9:100881034..100881597-chr9:100954968..100955628,2	Hela-S3	cervix:
9	chr9:100955094..100957753-chr9:101010315..101013161,2	MCF-7	breast:
10	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
11	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
12	chr9:100955088..100957656-chr9:100968748..100970804,2	K562	blood:
13	chr9:100907427..100908179-chr9:100955147..100955878,2	MCF-7	breast:
14	chr9:100919441..100922231-chr9:100955358..100957777,2	MCF-7	breast:
15	chr9:100880445..100882322-chr9:100953652..100955695,2	K562	blood:
16	chr1:6844513..6845109-chr9:100955150..100955785,2	Hela-S3	cervix:
17	chr9:100880288..100886270-chr9:100953608..100957100,8	MCF-7	breast:
18	chr9:100955096..100955755-chr9:101025700..101026542,2	MCF-7	breast:
19	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
20	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
21	chr9:100877974..100882322-chr9:100953652..100957621,5	K562	blood:

Variant related genes	Relation type
CORO2A	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100953200-100955600	Active TSS	Gastric	stomach
2	chr9:100953600-100955600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:100953600-100955800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:100953600-100955800	Active TSS	Rectal Smooth Muscle	rectum
5	chr9:100953800-100955800	Flanking Active TSS	HMEC	breast
6	chr9:100953800-100956000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr9:100954000-100955600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr9:100954000-100955600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr9:100954000-100955600	Active TSS	Stomach Mucosa	stomach
10	chr9:100954000-100955600	Active TSS	A549	lung
11	chr9:100954000-100955800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr9:100954000-100955800	Active TSS	Right Ventricle	heart
13	chr9:100954000-100956000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:100954000-100956000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:100954000-100956000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr9:100954200-100955600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:100954200-100955600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr9:100954200-100955600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr9:100954200-100955600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:100954200-100955600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:100954200-100955600	Active TSS	Hela-S3	cervix
22	chr9:100954200-100955600	Active TSS	HepG2	liver
23	chr9:100954200-100955600	Active TSS	HSMM	muscle
24	chr9:100954200-100955600	Active TSS	NHEK	skin
25	chr9:100954200-100955800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:100954200-100955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:100954200-100955800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr9:100954200-100955800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:100954200-100955800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:100954200-100955800	Active TSS	Small Intestine	intestine
31	chr9:100954200-100956000	Active TSS	Primary T cells from cord blood	blood
32	chr9:100954400-100955600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:100954400-100955600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:100954400-100955600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr9:100954400-100955600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr9:100954400-100955600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr9:100954400-100955600	Active TSS	Brain Anterior Caudate	brain
38	chr9:100954400-100955600	Active TSS	Fetal Kidney	kidney
39	chr9:100954400-100955600	Active TSS	Ovary	ovary
40	chr9:100954400-100955600	Active TSS	K562	blood
41	chr9:100954400-100955800	Active TSS	Brain Substantia Nigra	brain
42	chr9:100954400-100956000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:100954400-100956000	Active TSS	Brain Cingulate Gyrus	brain
44	chr9:100954400-100956200	Active TSS	Brain Angular Gyrus	brain
45	chr9:100954600-100955600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr9:100954600-100955600	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr9:100954600-100955600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr9:100954600-100955600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:100954600-100955600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr9:100954600-100955600	Weak transcription	Fetal Brain Male	brain

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