Variant report

Variant	rs529580416
Chromosome Location	chr9:94711086-94711087
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	THAP1	chr9:94711020-94711419	K562	blood:	n/a	n/a
2	EGR1	chr9:94710888-94711339	K562	blood:	n/a	chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141
3	MAZ	chr9:94710719-94713473	IMR90	lung:	n/a	chr9:94710846-94710856
4	PML	chr9:94710814-94711481	K562	blood:	n/a	n/a
5	MXI1	chr9:94710177-94713341	SK-N-SH	brain:	n/a	n/a
6	EP300	chr9:94710829-94711253	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr9:94710961-94711540	K562	blood:	n/a	n/a
8	CTCF	chr9:94711080-94711230	NHEK	skin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
9	ZBTB7A	chr9:94711005-94712853	K562	blood:	n/a	n/a
10	RAD21	chr9:94711057-94711359	SK-N-SH_RA	brain:	n/a	chr9:94711213-94711227
11	UBTF	chr9:94710450-94712833	K562	blood:	n/a	n/a
12	POLR2A	chr9:94710760-94712921	K562	blood:	n/a	n/a
13	MAZ	chr9:94711025-94711287	Hela-S3	cervix:	n/a	n/a
14	TBL1XR1	chr9:94710444-94711328	K562	blood:	n/a	n/a
15	STAT3	chr9:94711030-94711230	MCF10A-Er-Src	breast:	n/a	n/a
16	YY1	chr9:94711042-94711350	K562	blood:	n/a	n/a
17	CBX3	chr9:94710994-94711464	K562	blood:	n/a	n/a
18	GABPA	chr9:94710825-94711519	K562	blood:	n/a	chr9:94711115-94711124
19	ZNF263	chr9:94710311-94712868	HEK293-T-REx	kidney:	n/a	chr9:94711764-94711773
20	REST	chr9:94710780-94711393	K562	blood:	n/a	n/a
21	TAF1	chr9:94710938-94711573	K562	blood:	n/a	n/a
22	MYC	chr9:94710294-94711410	K562	blood:	n/a	chr9:94710846-94710856
23	GABPA	chr9:94710822-94711380	H1-hESC	embryonic stem cell:	n/a	chr9:94711115-94711124
24	RCOR1	chr9:94710360-94711669	K562	blood:	n/a	n/a
25	POLR2A	chr9:94711017-94711431	HCT-116	colon:	n/a	n/a
26	MYC	chr9:94710322-94711555	K562	blood:	n/a	chr9:94710846-94710856
27	ZNF143	chr9:94711084-94711464	K562	blood:	n/a	chr9:94711386-94711395 chr9:94711384-94711402
28	TBP	chr9:94710388-94711419	K562	blood:	n/a	n/a
29	CTCF	chr9:94710940-94711090	AG04450	lung:	n/a	n/a
30	MAX	chr9:94710348-94711807	K562	blood:	n/a	chr9:94710846-94710856
31	HDAC2	chr9:94711027-94711406	K562	blood:	n/a	chr9:94711166-94711175
32	ELF1	chr9:94711083-94711462	K562	blood:	n/a	chr9:94711403-94711415
33	SPI1	chr9:94711034-94711428	HL-60	blood:	n/a	n/a
34	MAX	chr9:94710968-94711359	K562	blood:	n/a	n/a
35	CTCF	chr9:94711020-94711170	HMEC	breast:	n/a	n/a
36	EGR1	chr9:94711020-94711168	GM12878	blood:	n/a	chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141
37	CCNT2	chr9:94710887-94712937	K562	blood:	n/a	chr9:94711693-94711702 chr9:94711618-94711627 chr9:94711360-94711369
38	HCFC1	chr9:94711021-94711442	K562	blood:	n/a	n/a
39	CTCF	chr9:94711060-94711210	GM12868	blood:	n/a	n/a
40	POLR2A	chr9:94710884-94711823	K562	blood:	n/a	n/a
41	TAF1	chr9:94711031-94711601	K562	blood:	n/a	n/a
42	ZC3H11A	chr9:94711008-94711230	K562	blood:	n/a	n/a
43	EGR1	chr9:94710756-94711378	K562	blood:	n/a	chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141
44	EGR1	chr9:94710911-94711350	ECC-1	luminal epithelium:	n/a	chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141
45	SMC3	chr9:94711080-94711496	K562	blood:	n/a	n/a
46	CTCF	chr9:94711048-94711362	K562	blood:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
47	E2F4	chr9:94711034-94711263	MCF10A-Er-Src	breast:	n/a	chr9:94711115-94711124 chr9:94711169-94711181
48	TCF12	chr9:94710889-94711260	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr9:94710953-94711498	K562	blood:	n/a	n/a
50	YY1	chr9:94710882-94711456	K562	blood:	n/a	chr9:94711363-94711374 chr9:94711402-94711416 chr9:94711429-94711440

Variant related genes	Relation type
ROR2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv982625	chr9:94702344-94712887	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3359987	chr9:94710956-94713704	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94709200-94713200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:94709800-94713200	Active TSS	Fetal Kidney	kidney
3	chr9:94710000-94712800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94710000-94712800	Active TSS	K562	blood
5	chr9:94710000-94714000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:94710200-94713000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:94710200-94713200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:94710200-94713200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:94710200-94713200	Active TSS	Colon Smooth Muscle	Colon
10	chr9:94710400-94711200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:94710400-94711200	Active TSS	Fetal Heart	heart
12	chr9:94710400-94711200	Bivalent/Poised TSS	NHLF	lung
13	chr9:94710400-94711400	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr9:94710400-94711800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr9:94710400-94711800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:94710400-94712000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr9:94710400-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr9:94710400-94712200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:94710400-94712200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:94710400-94712600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr9:94710400-94713000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:94710400-94713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:94710400-94713200	Active TSS	Fetal Lung	lung
24	chr9:94710400-94713400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr9:94710600-94711200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:94710600-94711200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
27	chr9:94710600-94711800	Bivalent Enhancer	Liver	Liver
28	chr9:94710600-94711800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr9:94710600-94711800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr9:94710600-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr9:94710600-94712600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr9:94710600-94712800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:94710600-94712800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr9:94710600-94712800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:94710600-94713000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr9:94710600-94713200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr9:94710600-94713200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr9:94710600-94713200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:94710600-94713400	Active TSS	Ovary	ovary
40	chr9:94710800-94711200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr9:94710800-94711200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr9:94710800-94711200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:94710800-94711200	Bivalent/Poised TSS	Lung	lung
44	chr9:94710800-94711200	Bivalent/Poised TSS	Right Ventricle	heart
45	chr9:94710800-94711400	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr9:94710800-94711400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr9:94710800-94711600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr9:94710800-94712000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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