Variant report

Variant	rs62434854
Chromosome Location	chr6:147235486-147235487
allele	A/C
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	POLR2A	chr6:147234915-147236448	HUVEC	blood vessel:	n/a	n/a
2	SMARCB1	chr6:147234590-147236203	K562	blood:	n/a	chr6:147236128-147236137
3	STAT3	chr6:147235121-147237159	MCF10A-Er-Src	breast:	n/a	chr6:147236837-147236845 chr6:147236430-147236438 chr6:147235420-147235431 chr6:147237024-147237032 chr6:147235967-147235990 chr6:147236128-147236137 chr6:147235967-147235975
4	EP300	chr6:147234972-147235503	SK-N-SH_RA	brain:	n/a	n/a
5	TAL1	chr6:147235085-147236230	K562	blood:	n/a	n/a
6	MAX	chr6:147234898-147235938	SK-N-SH	brain:	n/a	n/a
7	CCNT2	chr6:147235037-147236417	K562	blood:	n/a	n/a
8	PML	chr6:147234924-147236254	K562	blood:	n/a	chr6:147236129-147236138
9	EP300	chr6:147234448-147237183	Hela-S3	cervix:	n/a	chr6:147236127-147236136 chr6:147235715-147235724
10	POLR2A	chr6:147234979-147235491	Gliobla	brain:	n/a	n/a
11	RCOR1	chr6:147234956-147236112	K562	blood:	n/a	n/a
12	SP1	chr6:147234925-147236590	HCT-116	colon:	n/a	chr6:147236143-147236164
13	CBX3	chr6:147234881-147236601	HCT-116	colon:	n/a	chr6:147236153-147236164
14	CHD2	chr6:147235093-147235690	K562	blood:	n/a	n/a
15	CHD2	chr6:147234910-147236451	Hela-S3	cervix:	n/a	n/a
16	ELK1	chr6:147235130-147236191	Hela-S3	cervix:	n/a	n/a
17	EP300	chr6:147234848-147236772	SK-N-SH	brain:	n/a	chr6:147236127-147236136 chr6:147235715-147235724
18	STAT3	chr6:147235045-147236687	Hela-S3	cervix:	n/a	chr6:147236430-147236438 chr6:147235420-147235431 chr6:147235967-147235990 chr6:147236128-147236137 chr6:147235967-147235975
19	JUND	chr6:147234936-147235777	MCF-7	breast:	n/a	chr6:147235221-147235232 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724
20	TAF1	chr6:147234892-147235500	SK-N-SH	brain:	n/a	n/a
21	MAZ	chr6:147234942-147236097	Hela-S3	cervix:	n/a	n/a
22	MAX	chr6:147235082-147235925	HUVEC	blood vessel:	n/a	n/a
23	RAD21	chr6:147234891-147235513	SK-N-SH_RA	brain:	n/a	n/a
24	E2F6	chr6:147235167-147235514	K562	blood:	n/a	n/a
25	CEBPB	chr6:147234823-147236256	K562	blood:	n/a	n/a
26	TEAD4	chr6:147234222-147237330	K562	blood:	n/a	n/a
27	FOSL2	chr6:147234985-147235503	SK-N-SH	brain:	n/a	n/a
28	MAFK	chr6:147234582-147236597	IMR90	lung:	n/a	chr6:147235216-147235231 chr6:147235221-147235230 chr6:147235221-147235231 chr6:147235217-147235228 chr6:147235714-147235724
29	TEAD4	chr6:147234949-147235539	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr6:147234164-147236478	IMR90	lung:	n/a	n/a
31	EP300	chr6:147233867-147237300	SK-N-SH	brain:	n/a	chr6:147233984-147233991 chr6:147236127-147236136 chr6:147235715-147235724 chr6:147234002-147234011
32	MAFK	chr6:147235111-147235496	HepG2	liver:	n/a	chr6:147235216-147235231 chr6:147235221-147235230 chr6:147235221-147235231 chr6:147235217-147235228
33	FOS	chr6:147234528-147237260	MCF10A-Er-Src	breast:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147237087-147237098 chr6:147236128-147236137
34	MAFK	chr6:147235029-147236899	Hela-S3	cervix:	n/a	chr6:147235216-147235231 chr6:147235221-147235230 chr6:147235221-147235231 chr6:147235217-147235228 chr6:147235714-147235724
35	CEBPB	chr6:147234910-147236360	HCT-116	colon:	n/a	n/a
36	MYC	chr6:147234992-147236168	Hela-S3	cervix:	n/a	n/a
37	MAX	chr6:147234946-147236204	K562	blood:	n/a	n/a
38	TEAD4	chr6:147234958-147236645	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr6:147234884-147237309	SK-N-SH	brain:	n/a	chr6:147235818-147235825
40	GTF2F1	chr6:147234681-147236396	Hela-S3	cervix:	n/a	n/a
41	UBTF	chr6:147234975-147236204	K562	blood:	n/a	n/a
42	SP1	chr6:147234910-147236426	HCT-116	colon:	n/a	chr6:147236143-147236164
43	MAX	chr6:147234968-147235945	A549	lung:	n/a	n/a
44	FOS	chr6:147234517-147236436	MCF10A-Er-Src	breast:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147236128-147236137
45	MAX	chr6:147234984-147235676	MCF-7	breast:	n/a	n/a
46	JUN	chr6:147234973-147236322	K562	blood:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147236128-147236137
47	JUND	chr6:147234864-147236417	HCT-116	colon:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147235221-147235232 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147236126-147236137 chr6:147236128-147236137
48	FOS	chr6:147234566-147237322	HUVEC	blood vessel:	n/a	chr6:147236129-147236136 chr6:147236127-147236137 chr6:147236127-147236137 chr6:147235716-147235724 chr6:147235716-147235724 chr6:147235717-147235724 chr6:147236127-147236136 chr6:147236126-147236138 chr6:147237087-147237098 chr6:147236128-147236137
49	CTCF	chr6:147235012-147235530	K562	blood:	n/a	n/a
50	CEBPB	chr6:147234816-147236561	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
2	chr6:147233328..147236267-chr6:147495924..147498076,2	K562	blood:
3	chr6:147234020..147237797-chr6:147479326..147483886,4	K562	blood:
4	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
5	chr6:146134441..146136480-chr6:147234336..147236688,2	K562	blood:
6	chr6:147235428..147237038-chr6:147271559..147273136,2	K562	blood:
7	chr6:147230413..147232261-chr6:147234463..147236812,2	MCF-7	breast:
8	chr6:147200323..147203212-chr6:147234929..147236464,2	MCF-7	breast:
9	chr12:62653163..62653951-chr6:147234896..147235625,2	Hela-S3	cervix:
10	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
11	chr6:147234520..147236599-chr6:147304755..147307670,2	MCF-7	breast:
12	chr6:147233878..147235658-chr6:147257090..147258636,2	K562	blood:
13	chr6:147235229..147236928-chr6:147271559..147273634,2	K562	blood:
14	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:
15	chr6:147233707..147236071-chr6:147462747..147464328,2	K562	blood:
16	chr6:147232830..147236608-chr6:147480889..147484110,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf103-4	chr6:147234706-147236426	NONHSAT115444

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000272397	Chromatin interaction
ENSG00000164506	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000233452	Chromatin interaction
ENSG00000118496	Chromatin interaction
ENSG00000196634	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12660761	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12665618	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1324682	1.00[AMR][1000 genomes]
rs17076396	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17076398	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17076402	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17076405	1.00[AMR][1000 genomes]
rs17076406	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17076409	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62434396	1.00[AMR][1000 genomes]
rs62434397	1.00[AMR][1000 genomes]
rs62434402	1.00[AMR][1000 genomes]
rs62434411	1.00[AMR][1000 genomes]
rs62434413	1.00[AMR][1000 genomes]
rs62434420	1.00[AMR][1000 genomes]
rs62434424	1.00[AMR][1000 genomes]
rs62434804	1.00[AMR][1000 genomes]
rs62434806	1.00[AMR][1000 genomes]
rs62434827	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62434829	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62434831	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62434834	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62434835	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62434836	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62434837	0.80[ASN][1000 genomes]
rs62434838	0.80[ASN][1000 genomes]
rs62434839	0.80[ASN][1000 genomes]
rs62434840	0.80[ASN][1000 genomes]
rs62434841	1.00[AMR][1000 genomes]
rs62434853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434855	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72501711	1.00[AMR][1000 genomes]
rs72501713	1.00[AMR][1000 genomes]
rs9497659	1.00[AMR][1000 genomes];0.92[ASN][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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147233000-147237400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:147233800-147236200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr6:147233800-147237200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:147233800-147237400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:147234000-147235800	Enhancers	Placenta	Placenta
6	chr6:147234000-147236000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:147234000-147236200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:147234000-147236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:147234000-147237000	Flanking Active TSS	K562	blood
10	chr6:147234200-147236000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:147234200-147236000	Flanking Active TSS	Osteobl	bone
12	chr6:147234200-147236400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:147234200-147236800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:147234200-147237400	Enhancers	Fetal Intestine Large	intestine
15	chr6:147234400-147235600	Enhancers	Fetal Heart	heart
16	chr6:147234400-147236000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:147234400-147236200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:147234400-147236200	Enhancers	Fetal Kidney	kidney
19	chr6:147234400-147236800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:147234400-147237200	Flanking Active TSS	HUVEC	blood vessel
21	chr6:147234600-147235800	Enhancers	Primary B cells from cord blood	blood
22	chr6:147234600-147236000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:147234600-147236000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:147234600-147236000	Flanking Active TSS	NH-A	brain
25	chr6:147234600-147236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:147234600-147237200	Flanking Active TSS	HMEC	breast
27	chr6:147234600-147237400	Enhancers	Fetal Intestine Small	intestine
28	chr6:147234800-147235600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:147234800-147236000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:147234800-147237000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:147235000-147235600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:147235000-147235600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:147235000-147235600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:147235000-147235600	Active TSS	Aorta	Aorta
35	chr6:147235000-147235600	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:147235000-147235600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr6:147235000-147235600	Active TSS	Colon Smooth Muscle	Colon
38	chr6:147235000-147235600	Flanking Active TSS	Fetal Brain Female	brain
39	chr6:147235000-147235800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:147235000-147235800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:147235000-147235800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:147235000-147235800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:147235000-147235800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr6:147235000-147235800	Active TSS	Brain Anterior Caudate	brain
45	chr6:147235000-147235800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:147235000-147235800	Enhancers	Gastric	stomach
47	chr6:147235000-147235800	Enhancers	Lung	lung
48	chr6:147235000-147235800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr6:147235000-147235800	Weak transcription	Spleen	Spleen
50	chr6:147235000-147236000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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