Variant report

Variant	rs185016988
Chromosome Location	chr9:94711304-94711305
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	CTCF	chr9:94711280-94711430	GM12865	blood:	n/a	n/a
4	CTCF	chr9:94711138-94711327	MCF-7	breast:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
5	CTCF	chr9:94711180-94711330	AG04450	lung:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
6	BACH1	chr9:94711162-94711495	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:94711160-94711310	Caco-2	colon:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
8	MAZ	chr9:94710719-94713473	IMR90	lung:	n/a	chr9:94710846-94710856
9	PML	chr9:94710814-94711481	K562	blood:	n/a	n/a
10	CTCF	chr9:94711180-94711330	NHDF-neo	bronchial:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
11	CTCF	chr9:94711180-94711330	MCF-7	breast:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
12	GTF2F1	chr9:94711166-94711503	K562	blood:	n/a	n/a
13	CTCF	chr9:94711180-94711330	AG09319	gingival:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
14	CTCF	chr9:94711180-94711330	BJ	skin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
15	MXI1	chr9:94710177-94713341	SK-N-SH	brain:	n/a	n/a
16	SIN3AK20	chr9:94710961-94711540	K562	blood:	n/a	n/a
17	ZBTB7A	chr9:94711005-94712853	K562	blood:	n/a	n/a
18	RAD21	chr9:94711057-94711359	SK-N-SH_RA	brain:	n/a	chr9:94711213-94711227
19	UBTF	chr9:94710450-94712833	K562	blood:	n/a	n/a
20	CTCF	chr9:94711180-94711330	AG10803	skin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
21	POLR2A	chr9:94710760-94712921	K562	blood:	n/a	n/a
22	CTCF	chr9:94711240-94711390	BJ	skin:	n/a	n/a
23	TBL1XR1	chr9:94710444-94711328	K562	blood:	n/a	n/a
24	YY1	chr9:94711042-94711350	K562	blood:	n/a	n/a
25	CTCF	chr9:94711200-94711350	HCT-116	colon:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
26	CTCF	chr9:94711166-94711355	H1-hESC	embryonic stem cell:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
27	POLR2A	chr9:94711168-94711327	MCF-7	breast:	n/a	n/a
28	CBX3	chr9:94710994-94711464	K562	blood:	n/a	n/a
29	GABPA	chr9:94710825-94711519	K562	blood:	n/a	chr9:94711115-94711124
30	ZNF263	chr9:94710311-94712868	HEK293-T-REx	kidney:	n/a	chr9:94711764-94711773
31	REST	chr9:94710780-94711393	K562	blood:	n/a	n/a
32	TAF1	chr9:94710938-94711573	K562	blood:	n/a	n/a
33	MYC	chr9:94710294-94711410	K562	blood:	n/a	chr9:94710846-94710856
34	CTCF	chr9:94711160-94711310	SK-N-SH_RA	brain:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
35	IRF1	chr9:94711116-94711466	K562	blood:	n/a	chr9:94711356-94711370 chr9:94711319-94711328
36	GABPA	chr9:94710822-94711380	H1-hESC	embryonic stem cell:	n/a	chr9:94711115-94711124
37	RCOR1	chr9:94710360-94711669	K562	blood:	n/a	n/a
38	POLR2A	chr9:94711017-94711431	HCT-116	colon:	n/a	n/a
39	CTCF	chr9:94711220-94711370	HAc	cerebellar:	n/a	n/a
40	MYC	chr9:94710322-94711555	K562	blood:	n/a	chr9:94710846-94710856
41	ZNF143	chr9:94711084-94711464	K562	blood:	n/a	chr9:94711386-94711395 chr9:94711384-94711402
42	TBP	chr9:94710388-94711419	K562	blood:	n/a	n/a
43	CTCF	chr9:94711180-94711330	NHEK	skin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
44	CTCF	chr9:94711224-94711324	Kidney_OC	kidney:	n/a	n/a
45	MAX	chr9:94710348-94711807	K562	blood:	n/a	chr9:94710846-94710856
46	HDAC2	chr9:94711027-94711406	K562	blood:	n/a	chr9:94711166-94711175
47	ELF1	chr9:94711083-94711462	K562	blood:	n/a	chr9:94711403-94711415
48	RAD21	chr9:94711088-94711338	K562	blood:	n/a	chr9:94711213-94711227
49	SPI1	chr9:94711034-94711428	HL-60	blood:	n/a	n/a
50	YY1	chr9:94711111-94711309	HCT-116	colon:	n/a	n/a

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:105 , 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	chr9:94710400-94711400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr9:94710400-94711800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr9:94710400-94711800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:94710400-94712000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr9:94710400-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr9:94710400-94712200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:94710400-94712200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:94710400-94712600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:94710400-94713000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:94710400-94713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:94710400-94713200	Active TSS	Fetal Lung	lung
21	chr9:94710400-94713400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:94710600-94711800	Bivalent Enhancer	Liver	Liver
23	chr9:94710600-94711800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr9:94710600-94711800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr9:94710600-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr9:94710600-94712600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr9:94710600-94712800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:94710600-94712800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:94710600-94712800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:94710600-94713000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr9:94710600-94713200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:94710600-94713200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr9:94710600-94713200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr9:94710600-94713400	Active TSS	Ovary	ovary
35	chr9:94710800-94711400	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr9:94710800-94711400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr9:94710800-94711600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
38	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	HMEC	breast
40	chr9:94710800-94712000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr9:94710800-94712000	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr9:94710800-94712200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr9:94710800-94712400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:94710800-94712400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:94710800-94712400	Bivalent/Poised TSS	Small Intestine	intestine
46	chr9:94710800-94712600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:94710800-94712600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:94710800-94712600	Bivalent/Poised TSS	Left Ventricle	heart
49	chr9:94710800-94712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr9:94710800-94712800	Bivalent/Poised TSS	Thymus	Thymus

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