Variant report

Variant	rs4758695
Chromosome Location	chr12:122853197-122853198
allele	A/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	YY1	chr12:122853098-122853335	K562	blood:	n/a	n/a
2	EGR1	chr12:122852717-122853319	HCT-116	colon:	n/a	chr12:122852966-122852981 chr12:122852968-122852979
3	NR2F2	chr12:122852915-122853531	MCF-7	breast:	n/a	n/a
4	TBL1XR1	chr12:122852988-122853327	K562	blood:	n/a	n/a
5	FOXA1	chr12:122852932-122853453	HepG2	liver:	n/a	n/a
6	JUND	chr12:122852926-122853409	K562	blood:	n/a	chr12:122853217-122853228
7	KAP1	chr12:122852597-122853815	HEK293	kidney:	n/a	n/a
8	TCF12	chr12:122852833-122853573	A549	lung:	n/a	n/a
9	FOSL2	chr12:122853006-122853421	HepG2	liver:	n/a	chr12:122853216-122853227
10	FOSL2	chr12:122852897-122853492	A549	lung:	n/a	chr12:122853216-122853227
11	JUND	chr12:122853044-122853318	HepG2	liver:	n/a	chr12:122853217-122853228
12	JUND	chr12:122852985-122853404	Hela-S3	cervix:	n/a	chr12:122853217-122853228
13	FOS	chr12:122853047-122853385	HUVEC	blood vessel:	n/a	chr12:122853217-122853228
14	ARID3A	chr12:122852910-122853357	K562	blood:	n/a	n/a
15	FOS	chr12:122853167-122853355	MCF10A-Er-Src	breast:	n/a	chr12:122853217-122853228
16	EP300	chr12:122852970-122853352	K562	blood:	n/a	chr12:122853193-122853203
17	FOXA2	chr12:122852951-122853528	A549	lung:	n/a	n/a
18	FOS	chr12:122853045-122853388	MCF10A-Er-Src	breast:	n/a	chr12:122853217-122853228
19	FOXA2	chr12:122852929-122853452	HepG2	liver:	n/a	n/a
20	FOXA1	chr12:122852971-122853431	HepG2	liver:	n/a	n/a
21	JUND	chr12:122853089-122853291	HepG2	liver:	n/a	chr12:122853217-122853228
22	TEAD4	chr12:122852822-122853383	K562	blood:	n/a	n/a
23	FOSL2	chr12:122853026-122853289	A549	lung:	n/a	chr12:122853216-122853227
24	POLR2A	chr12:122852938-122853289	Hela-S3	cervix:	n/a	n/a
25	USF2	chr12:122853124-122853262	Hela-S3	cervix:	n/a	n/a
26	MAX	chr12:122853054-122853327	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:122852943-122853388	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr12:122852736-122853686	HEK293	kidney:	n/a	n/a
29	REST	chr12:122852971-122853315	PANC-1	pancreas:	n/a	n/a
30	JUND	chr12:122853044-122853360	HepG2	liver:	n/a	chr12:122853217-122853228
31	RCOR1	chr12:122852345-122853483	IMR90	lung:	n/a	n/a
32	FOXA2	chr12:122853010-122853287	HepG2	liver:	n/a	n/a
33	TAL1	chr12:122853028-122853288	K562	blood:	n/a	n/a
34	FOSL1	chr12:122852976-122853432	K562	blood:	n/a	n/a
35	FOXA1	chr12:122852890-122853317	HepG2	liver:	n/a	n/a
36	FOSL2	chr12:122853035-122853408	HepG2	liver:	n/a	chr12:122853216-122853227
37	SETDB1	chr12:122852909-122853572	U2OS	brain:	n/a	n/a
38	FOXA2	chr12:122852948-122853584	A549	lung:	n/a	n/a
39	MYC	chr12:122853169-122853301	MCF10A-Er-Src	breast:	n/a	n/a
40	ESR1	chr12:122853105-122853652	ECC-1	luminal epithelium:	n/a	n/a
41	FOXA1	chr12:122852973-122853378	HepG2	liver:	n/a	n/a
42	FOS	chr12:122853047-122853385	MCF10A-Er-Src	breast:	n/a	chr12:122853217-122853228
43	YY1	chr12:122853007-122853269	HCT-116	colon:	n/a	n/a
44	JUN	chr12:122852521-122853531	K562	blood:	n/a	n/a
45	JUN	chr12:122853049-122853363	K562	blood:	n/a	n/a
46	KAP1	chr12:122852787-122853423	U2OS	brain:	n/a	n/a
47	RCOR1	chr12:122853123-122853307	K562	blood:	n/a	n/a
48	CCNT2	chr12:122853094-122853309	K562	blood:	n/a	n/a
49	FOS	chr12:122852957-122853386	Hela-S3	cervix:	n/a	chr12:122853217-122853228
50	JUND	chr12:122852890-122853476	HCT-116	colon:	n/a	chr12:122853217-122853228

No.	Distal block	Cell Line	Cell type
1	chr12:122850554..122853337-chr12:122906112..122908968,4	MCF-7	breast:
2	chr12:122852431..122854789-chr12:122856151..122858471,2	K562	blood:
3	chr12:122852168..122854562-chr12:122859808..122862389,2	K562	blood:
4	chr12:122821893..122824534-chr12:122852571..122854340,2	K562	blood:
5	chr12:122749387..122752035-chr12:122851461..122854406,2	K562	blood:
6	chr12:122851188..122853354-chr12:122856942..122858649,2	MCF-7	breast:
7	chr12:122853062..122855389-chr12:122859440..122862477,3	K562	blood:

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000256861	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10161184	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10161488	0.97[ASN][1000 genomes]
rs10744242	0.81[CHB][hapmap]
rs10773090	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10773108	0.97[ASN][1000 genomes]
rs10773117	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.97[ASN][1000 genomes]
rs10773230	0.81[CHB][hapmap]
rs10846714	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10846852	0.84[ASN][1000 genomes]
rs10846871	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10846912	1.00[CHB][hapmap]
rs10846968	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11057522	0.85[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs11057686	0.92[ASN][1000 genomes]
rs11057705	0.84[ASN][1000 genomes]
rs11057813	0.99[ASN][1000 genomes]
rs11057819	0.99[ASN][1000 genomes]
rs11058562	0.86[GIH][hapmap]
rs1129167	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11503023	0.99[ASN][1000 genomes]
rs11610303	0.81[CHB][hapmap]
rs11830957	0.84[ASN][1000 genomes]
rs12308903	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12812332	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs12817342	0.86[CHB][hapmap];0.91[GIH][hapmap]
rs12818177	0.99[ASN][1000 genomes]
rs12819355	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12828876	0.82[ASN][1000 genomes]
rs12829449	0.85[ASN][1000 genomes]
rs1392142	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1532579	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1553178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2341438	0.84[ASN][1000 genomes]
rs3825096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4356269	0.86[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs4758657	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4758658	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4758660	0.81[CHB][hapmap]
rs4758664	0.85[ASN][1000 genomes]
rs4758665	0.84[ASN][1000 genomes]
rs4758692	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4758693	0.98[ASN][1000 genomes]
rs61021925	0.85[ASN][1000 genomes]
rs6416295	0.81[CHB][hapmap]
rs6488947	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs6489014	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6489051	0.81[CHB][hapmap]
rs7134381	0.81[CHB][hapmap]
rs7296680	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7298839	0.81[CHB][hapmap]
rs7305360	0.84[ASN][1000 genomes]
rs7311573	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7313121	0.88[ASN][1000 genomes]
rs7313284	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7953204	0.87[ASN][1000 genomes]
rs7955513	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7959550	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7961258	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7964981	0.83[ASN][1000 genomes]
rs7972832	0.88[ASN][1000 genomes]
rs7973480	0.88[ASN][1000 genomes]
rs7974160	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7975492	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7978636	0.87[ASN][1000 genomes]
rs868181	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs9788228	0.98[CHD][hapmap];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4758695	DYNLL1	cis	parietal	SCAN
rs4758695	NOS1	cis	parietal	SCAN
rs4758695	SRSF9	cis	parietal	SCAN
rs4758695	SIRT4	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
3	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
5	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
9	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:122846000-122854000	Weak transcription	GM12878-XiMat	blood
12	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
14	chr12:122846200-122856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:122846200-122856000	Weak transcription	Right Ventricle	heart
16	chr12:122846200-122859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
19	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:122846400-122853800	Weak transcription	Gastric	stomach
21	chr12:122846400-122855600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:122846400-122856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:122846400-122860400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:122846600-122861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:122847800-122853600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:122848000-122856000	Weak transcription	Esophagus	oesophagus
27	chr12:122848200-122855800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122848200-122860400	Weak transcription	Fetal Thymus	thymus
29	chr12:122848200-122861400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:122848400-122855800	Weak transcription	Primary B cells from cord blood	blood
31	chr12:122848400-122860400	Weak transcription	Colonic Mucosa	Colon
32	chr12:122848600-122854200	Weak transcription	Fetal Stomach	stomach
33	chr12:122848600-122854200	Weak transcription	Pancreas	Pancrea
34	chr12:122848600-122855600	Weak transcription	Fetal Brain Female	brain
35	chr12:122848600-122856000	Weak transcription	Spleen	Spleen
36	chr12:122848600-122856200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:122848600-122861400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:122848800-122853800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:122848800-122854000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:122848800-122855000	Weak transcription	Primary T cells from cord blood	blood
41	chr12:122848800-122855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:122848800-122855800	Weak transcription	Brain Germinal Matrix	brain
43	chr12:122848800-122855800	Weak transcription	Lung	lung
44	chr12:122848800-122856200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:122848800-122856200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:122849000-122853800	Weak transcription	Dnd41	blood
47	chr12:122849000-122854000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:122849000-122854600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:122849000-122855600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:122849000-122855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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