Variant report

Variant	rs367746193
Chromosome Location	chr10:96161792-96161793
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	REST	chr10:96161755-96162536	A549	lung:	n/a	n/a
2	CBX3	chr10:96161771-96162241	K562	blood:	n/a	n/a
3	SIN3AK20	chr10:96161730-96163900	PANC-1	pancreas:	n/a	n/a
4	GATA3	chr10:96161763-96162741	A549	lung:	n/a	n/a
5	BCLAF1	chr10:96161767-96162712	GM12878	blood:	n/a	chr10:96162279-96162292 chr10:96162275-96162288 chr10:96162345-96162358
6	SRF	chr10:96161736-96162464	MCF-7	breast:	n/a	chr10:96161963-96161976 chr10:96161965-96161976 chr10:96161964-96161975 chr10:96161961-96161978 chr10:96161963-96161974 chr10:96161965-96161974 chr10:96161959-96161977 chr10:96161964-96161981 chr10:96161962-96161977 chr10:96161963-96161976
7	MAX	chr10:96161781-96162738	MCF-7	breast:	n/a	n/a
8	MAX	chr10:96161685-96163230	HepG2	liver:	n/a	n/a
9	MYC	chr10:96161788-96163385	A549	lung:	n/a	n/a
10	BCL3	chr10:96161704-96162598	A549	lung:	n/a	chr10:96162279-96162292 chr10:96162275-96162288 chr10:96162345-96162358
11	PBX3	chr10:96161761-96162443	SK-N-SH	brain:	n/a	n/a
12	SP2	chr10:96161753-96162371	HepG2	liver:	n/a	n/a
13	BCL3	chr10:96161717-96162346	A549	lung:	n/a	chr10:96162279-96162292 chr10:96162275-96162288
14	MAX	chr10:96161672-96162810	HCT-116	colon:	n/a	n/a
15	EP300	chr10:96161710-96162835	ECC-1	luminal epithelium:	n/a	chr10:96162235-96162251
16	TAF1	chr10:96161730-96163892	ECC-1	luminal epithelium:	n/a	n/a
17	MAZ	chr10:96161687-96164019	IMR90	lung:	n/a	n/a
18	SRF	chr10:96161787-96162690	ECC-1	luminal epithelium:	n/a	chr10:96161963-96161976 chr10:96161965-96161976 chr10:96161964-96161975 chr10:96161961-96161978 chr10:96161963-96161974 chr10:96161965-96161974 chr10:96161959-96161977 chr10:96161964-96161981 chr10:96161962-96161977 chr10:96161963-96161976
19	RELA	chr10:96161738-96162884	GM12891	blood:	n/a	n/a
20	MAX	chr10:96161706-96163766	HepG2	liver:	n/a	n/a
21	HA-E2F1	chr10:96161288-96163137	MCF-7	breast:	n/a	chr10:96162186-96162195
22	MAX	chr10:96161649-96163825	ECC-1	luminal epithelium:	n/a	n/a
23	E2F6	chr10:96161682-96162730	A549	lung:	n/a	chr10:96162186-96162195
24	E2F6	chr10:96161792-96163136	K562	blood:	n/a	chr10:96162186-96162195
25	SP1	chr10:96161764-96162530	A549	lung:	n/a	chr10:96162242-96162252 chr10:96161922-96161943
26	CBX3	chr10:96161648-96162699	HCT-116	colon:	n/a	n/a
27	PML	chr10:96161694-96162686	GM12878	blood:	n/a	n/a
28	MXI1	chr10:96161737-96164023	IMR90	lung:	n/a	n/a
29	TAF1	chr10:96161730-96164038	ECC-1	luminal epithelium:	n/a	n/a
30	ZNF263	chr10:96161765-96163993	HEK293-T-REx	kidney:	n/a	chr10:96162519-96162540
31	SETDB1	chr10:96161784-96162172	U2OS	brain:	n/a	n/a
32	MXI1	chr10:96161706-96164213	SK-N-SH	brain:	n/a	n/a
33	SP2	chr10:96161708-96162372	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr10:96161752-96162087	HepG2	liver:	n/a	n/a
35	SP1	chr10:96161791-96162568	A549	lung:	n/a	chr10:96162242-96162252 chr10:96161922-96161943
36	POLR2A	chr10:96161786-96162687	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr10:96161788-96162688	U87	brain:	n/a	n/a
38	MTA3	chr10:96161697-96162844	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:96161705-96162688	U87	brain:	n/a	n/a
40	POLR2A	chr10:96161792-96162570	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr10:96161707-96162796	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr10:96161693-96162588	ECC-1	luminal epithelium:	n/a	n/a
43	E2F6	chr10:96161725-96163499	H1-hESC	embryonic stem cell:	n/a	chr10:96162186-96162195
44	SRF	chr10:96161727-96162462	MCF-7	breast:	n/a	chr10:96161963-96161976 chr10:96161965-96161976 chr10:96161964-96161975 chr10:96161961-96161978 chr10:96161963-96161974 chr10:96161965-96161974 chr10:96161959-96161977 chr10:96161964-96161981 chr10:96161962-96161977 chr10:96161963-96161976
45	POLR2A	chr10:96161786-96163798	Raji	blood:	n/a	n/a
46	MYBL2	chr10:96161769-96162451	HepG2	liver:	n/a	n/a
47	E2F6	chr10:96161653-96163545	H1-hESC	embryonic stem cell:	n/a	chr10:96162186-96162195
48	MAX	chr10:96161673-96163925	ECC-1	luminal epithelium:	n/a	n/a
49	SRF	chr10:96161662-96162588	ECC-1	luminal epithelium:	n/a	chr10:96161963-96161976 chr10:96161965-96161976 chr10:96161964-96161975 chr10:96161961-96161978 chr10:96161963-96161974 chr10:96161965-96161974 chr10:96161959-96161977 chr10:96161964-96161981 chr10:96161962-96161977 chr10:96161963-96161976
50	REST	chr10:96161631-96164002	H1-neurons	neurons:	n/a	chr10:96163551-96163569

No.	Distal block	Cell Line	Cell type
1	chr10:96120934..96124258-chr10:96160439..96165957,6	MCF-7	breast:
2	chr10:96121306..96124383-chr10:96159927..96163798,5	MCF-7	breast:
3	chr10:96160448..96164371-chr10:96304138..96307716,8	MCF-7	breast:
4	chr10:96122660..96124273-chr10:96159058..96162494,4	K562	blood:
5	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:
6	chr10:96159758..96162488-chr10:96305268..96307065,2	K562	blood:

Variant related genes	Relation type
TBC1D12	TF binding region
ENSG00000173145	Chromatin interaction
ENSG00000119969	Chromatin interaction

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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3398177	chr10:96139011-96169931	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3411992	chr10:96139011-96172041	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv551947	chr10:96154267-96162969	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv551948	chr10:96154267-96163020	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3359689	chr10:96161587-96164135	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96155800-96161800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:96155800-96162000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:96157800-96161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:96157800-96161800	Weak transcription	NH-A	brain
5	chr10:96157800-96161800	Weak transcription	NHEK	skin
6	chr10:96158000-96161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:96158200-96161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:96158200-96161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:96158200-96161800	Weak transcription	A549	lung
10	chr10:96158200-96161800	Weak transcription	HepG2	liver
11	chr10:96158200-96161800	Weak transcription	HSMMtube	muscle
12	chr10:96158200-96161800	Weak transcription	K562	blood
13	chr10:96158400-96161800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:96158600-96161800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:96158800-96161800	Weak transcription	HSMM	muscle
16	chr10:96161200-96162400	Active TSS	Fetal Brain Male	brain
17	chr10:96161200-96164000	Active TSS	Placenta	Placenta
18	chr10:96161400-96162000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr10:96161600-96161800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr10:96161600-96161800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:96161600-96161800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:96161600-96163800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr10:96161600-96164200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr10:96161600-96164600	Active TSS	Rectal Smooth Muscle	rectum
25	chr10:96161600-96164800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:96161600-96164800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:96161600-96164800	Active TSS	Stomach Smooth Muscle	stomach
28	chr10:96161600-96164800	Active TSS	Hela-S3	cervix
29	chr10:96161600-96165000	Active TSS	Brain Anterior Caudate	brain
30	chr10:96161600-96165000	Active TSS	Fetal Intestine Large	intestine
31	chr10:96161600-96165400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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