Variant report

Variant	rs74128530
Chromosome Location	chr1:174965754-174965755
allele	A/G
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	TBL1XR1	chr1:174965739-174965939	K562	blood:	n/a	n/a
2	EP300	chr1:174965677-174966052	K562	blood:	n/a	n/a
3	POLR2A	chr1:174965583-174970714	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr1:174965645-174965988	HepG2	liver:	n/a	chr1:174965815-174965826
5	ZNF384	chr1:174965607-174966085	K562	blood:	n/a	n/a
6	MYC	chr1:174965728-174965964	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr1:174965754-174965954	HepG2	liver:	n/a	n/a
8	ZC3H11A	chr1:174965752-174965807	K562	blood:	n/a	n/a
9	EP300	chr1:174965705-174965957	Hela-S3	cervix:	n/a	n/a
10	EP300	chr1:174965694-174965926	SK-N-SH_RA	brain:	n/a	n/a
11	ARID3A	chr1:174965684-174966054	K562	blood:	n/a	n/a
12	JUN	chr1:174965603-174965975	K562	blood:	n/a	n/a
13	JUND	chr1:174965607-174966039	K562	blood:	n/a	chr1:174965815-174965826
14	STAT3	chr1:174965727-174965969	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr1:174965746-174965977	MCF10A-Er-Src	breast:	n/a	n/a
16	CBX3	chr1:174965359-174966151	K562	blood:	n/a	n/a
17	FOSL2	chr1:174965614-174966142	SK-N-SH	brain:	n/a	n/a
18	JUN	chr1:174964778-174966321	K562	blood:	n/a	n/a
19	POLR2A	chr1:174963970-174972111	K562	blood:	n/a	n/a
20	STAT3	chr1:174965743-174965994	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:174965619-174966717	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUN	chr1:174965646-174966002	HUVEC	blood vessel:	n/a	n/a
23	NFATC1	chr1:174964816-174966938	GM12878	blood:	n/a	n/a
24	TRIM28	chr1:174965628-174965920	K562	blood:	n/a	n/a
25	FOS	chr1:174965631-174966057	MCF10A-Er-Src	breast:	n/a	chr1:174965815-174965826
26	JUND	chr1:174965630-174966026	Hela-S3	cervix:	n/a	chr1:174965815-174965826
27	MYC	chr1:174965741-174966103	MCF10A-Er-Src	breast:	n/a	n/a
28	JUN	chr1:174965594-174965956	K562	blood:	n/a	n/a
29	POLR2A	chr1:174964509-174966297	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:174965633-174965938	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:174965582-174965968	HUVEC	blood vessel:	n/a	n/a
32	MTA3	chr1:174965552-174970296	GM12878	blood:	n/a	n/a
33	ATF3	chr1:174965600-174966060	K562	blood:	n/a	n/a
34	EP300	chr1:174965672-174965947	SK-N-SH_RA	brain:	n/a	n/a
35	MAFK	chr1:174965693-174965991	Hela-S3	cervix:	n/a	chr1:174965787-174965798 chr1:174965788-174965799 chr1:174965787-174965802
36	RFX5	chr1:174965754-174965966	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr1:174965670-174966006	K562	blood:	n/a	chr1:174965787-174965798 chr1:174965788-174965799 chr1:174965787-174965802
38	MAFK	chr1:174965721-174965907	HepG2	liver:	n/a	chr1:174965787-174965798 chr1:174965788-174965799 chr1:174965787-174965802
39	FOS	chr1:174965406-174966080	HUVEC	blood vessel:	n/a	chr1:174965815-174965826
40	SMC3	chr1:174965682-174965959	Hela-S3	cervix:	n/a	n/a
41	PBX3	chr1:174965554-174966106	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr1:174965683-174969692	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:174965744-174969756	MCF10A-Er-Src	breast:	n/a	n/a
44	TBL1XR1	chr1:174965684-174965780	K562	blood:	n/a	n/a
45	JUN	chr1:174965656-174965968	Hela-S3	cervix:	n/a	n/a
46	FOSL1	chr1:174965692-174965989	K562	blood:	n/a	chr1:174965815-174965826
47	MAFF	chr1:174965668-174966066	K562	blood:	n/a	n/a
48	IRF1	chr1:174965667-174965948	K562	blood:	n/a	n/a
49	CEBPB	chr1:174965700-174966073	Hela-S3	cervix:	n/a	n/a
50	FOS	chr1:174965625-174966098	MCF10A-Er-Src	breast:	n/a	chr1:174965815-174965826

No.	Distal block	Cell Line	Cell type
1	chr1:174932418..174935374-chr1:174964535..174970014,5	K562	blood:
2	chr1:174768282..174770482-chr1:174964486..174966155,2	MCF-7	breast:
3	chr1:174935713..174937264-chr1:174965663..174967538,2	K562	blood:
4	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:
5	chr1:174840446..174846237-chr1:174965266..174970099,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS14-1	chr1:174964447-174968075	NONHSAT007742

Variant related genes	Relation type
CACYBP	TF binding region
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489331	1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912866	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912869	1.00[EUR][1000 genomes]
rs11806870	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	1.00[EUR][1000 genomes]
rs12072529	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs13376513	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847652	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16847670	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847689	1.00[EUR][1000 genomes]
rs16847701	1.00[EUR][1000 genomes]
rs1894679	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4650677	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651250	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	1.00[EUR][1000 genomes]
rs60411387	1.00[EUR][1000 genomes]
rs6425311	1.00[EUR][1000 genomes]
rs6689751	1.00[EUR][1000 genomes]
rs74128526	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:174935000-174967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:174940000-174967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:174941000-174968000	Weak transcription	Gastric	stomach
5	chr1:174944400-174967800	Weak transcription	Aorta	Aorta
6	chr1:174944800-174967800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:174944800-174968000	Weak transcription	Spleen	Spleen
8	chr1:174946000-174968000	Weak transcription	Lung	lung
9	chr1:174949000-174967800	Weak transcription	Fetal Stomach	stomach
10	chr1:174952200-174967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:174952400-174968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:174952800-174965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:174954800-174968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:174956000-174967800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:174956200-174967400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:174959600-174967400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:174960000-174965800	Weak transcription	HSMM	muscle
18	chr1:174960000-174967200	Weak transcription	Fetal Thymus	thymus
19	chr1:174960000-174967200	Weak transcription	Left Ventricle	heart
20	chr1:174960000-174967800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:174960000-174968000	Weak transcription	Esophagus	oesophagus
22	chr1:174960200-174965800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:174960200-174966400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:174960200-174967000	Weak transcription	Primary T cells from cord blood	blood
25	chr1:174960200-174967000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:174960200-174967000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:174960200-174967200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:174960200-174967200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:174960200-174967200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:174960200-174967200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:174960200-174967200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:174960200-174967400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:174960200-174967400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:174960200-174967400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:174960200-174967400	Weak transcription	A549	lung
36	chr1:174960200-174967600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:174960200-174967600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:174960200-174967600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:174960200-174967600	Weak transcription	Thymus	Thymus
40	chr1:174960200-174967800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:174960200-174967800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:174960200-174967800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:174960200-174967800	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:174960200-174967800	Weak transcription	HSMMtube	muscle
45	chr1:174960400-174967800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:174960600-174967200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:174960600-174967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:174960600-174967600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:174960800-174966800	Weak transcription	Dnd41	blood
50	chr1:174960800-174967400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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