Variant report

Variant	rs111525008
Chromosome Location	chr6:76311478-76311479
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	TAF1	chr6:76311270-76312565	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:76311116-76312781	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:76310802-76312829	GM19099	blood:	n/a	n/a
4	POLR2A	chr6:76311216-76312639	PFSK-1	brain:	n/a	n/a
5	MYC	chr6:76311357-76312424	H1-hESC	embryonic stem cell:	n/a	chr6:76311659-76311669
6	YY1	chr6:76311179-76312673	GM12891	blood:	n/a	chr6:76312230-76312250 chr6:76311810-76311832 chr6:76311468-76311482 chr6:76311810-76311820 chr6:76311435-76311444
7	MAX	chr6:76311111-76312557	ECC-1	luminal epithelium:	n/a	chr6:76311659-76311669
8	MXI1	chr6:76311044-76312921	IMR90	lung:	n/a	n/a
9	YY1	chr6:76311190-76311509	H1-hESC	embryonic stem cell:	n/a	chr6:76311468-76311482 chr6:76311435-76311444
10	IRF1	chr6:76311308-76311890	K562	blood:	n/a	chr6:76311856-76311876
11	MAX	chr6:76311330-76312405	HepG2	liver:	n/a	chr6:76311659-76311669
12	POLR2A	chr6:76311174-76312606	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:76311259-76312544	A549	lung:	n/a	n/a
14	JUND	chr6:76311198-76312043	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr6:76311333-76311674	K562	blood:	n/a	chr6:76311435-76311444
16	POLR2A	chr6:76311202-76312241	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr6:76311084-76312468	MCF10A-Er-Src	breast:	n/a	chr6:76311659-76311669
18	YY1	chr6:76311475-76311641	HCT-116	colon:	n/a	n/a
19	TCF7L2	chr6:76311440-76312337	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:76311229-76312832	K562	blood:	n/a	n/a
21	MYBL2	chr6:76311185-76311972	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:76311195-76312320	HUVEC	blood vessel:	n/a	n/a
23	CEBPD	chr6:76311299-76311911	HepG2	liver:	n/a	n/a
24	EBF1	chr6:76311150-76311768	GM12878	blood:	n/a	n/a
25	TAF1	chr6:76311212-76312486	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:76310972-76312561	PFSK-1	brain:	n/a	n/a
27	ZBTB7A	chr6:76311355-76311932	K562	blood:	n/a	n/a
28	POLR2A	chr6:76311224-76312602	HUVEC	blood vessel:	n/a	n/a
29	EGR1	chr6:76311298-76311810	H1-hESC	embryonic stem cell:	n/a	chr6:76311595-76311609 chr6:76311708-76311721 chr6:76311359-76311366 chr6:76311578-76311592
30	GTF2F1	chr6:76311330-76312635	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:76311202-76312597	NB4	blood:	n/a	n/a
32	SIN3A	chr6:76311230-76313189	H1-hESC	embryonic stem cell:	n/a	chr6:76311505-76311516 chr6:76312351-76312365 chr6:76312044-76312057
33	FOXM1	chr6:76311045-76312780	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:76311252-76311534	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr6:76311190-76312620	GM12878	blood:	n/a	chr6:76312230-76312250 chr6:76311810-76311832 chr6:76311468-76311482 chr6:76311810-76311820 chr6:76311435-76311444
36	HA-E2F1	chr6:76311104-76312429	MCF-7	breast:	n/a	chr6:76311435-76311444 chr6:76311733-76311743 chr6:76311730-76311740
37	EGR1	chr6:76311313-76312513	ECC-1	luminal epithelium:	n/a	chr6:76311909-76311924 chr6:76311595-76311609 chr6:76311708-76311721 chr6:76311916-76311923 chr6:76311359-76311366 chr6:76311906-76311928 chr6:76311578-76311592
38	CEBPD	chr6:76311367-76311829	K562	blood:	n/a	n/a
39	YY1	chr6:76311245-76312631	HepG2	liver:	n/a	chr6:76312230-76312250 chr6:76311810-76311832 chr6:76311468-76311482 chr6:76311810-76311820 chr6:76311435-76311444
40	PML	chr6:76311264-76311785	GM12878	blood:	n/a	n/a
41	TAF1	chr6:76311203-76311984	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:76311139-76312650	HL-60	blood:	n/a	n/a
43	MYC	chr6:76311442-76311913	MCF-7	breast:	n/a	chr6:76311659-76311669
44	ELF1	chr6:76311314-76311838	GM12878	blood:	n/a	n/a
45	YY1	chr6:76311154-76312624	K562	blood:	n/a	chr6:76312230-76312250 chr6:76311810-76311832 chr6:76311468-76311482 chr6:76311810-76311820 chr6:76311435-76311444
46	YY1	chr6:76311214-76312623	SK-N-SH	brain:	n/a	chr6:76312230-76312250 chr6:76311810-76311832 chr6:76311468-76311482 chr6:76311810-76311820 chr6:76311435-76311444
47	POLR2A	chr6:76311274-76312246	A549	lung:	n/a	n/a
48	POLR2A	chr6:76311278-76311897	HepG2	liver:	n/a	n/a
49	TCF12	chr6:76311473-76312402	A549	lung:	n/a	n/a
50	SIN3AK20	chr6:76311038-76312824	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74229402..74231607-chr6:76310929..76313785,2	K562	blood:
2	chr6:76311042..76312955-chr6:76326997..76330794,3	MCF-7	breast:
3	chr6:76310717..76312305-chr6:76374454..76377244,2	K562	blood:
4	chr6:76311276..76313926-chr6:76328791..76332406,4	MCF-7	breast:
5	chr6:76310925..76313590-chr6:76457201..76459634,2	K562	blood:
6	chr16:56659383..56660167-chr6:76311075..76311920,2	HCT-116	colon:
7	chr19:1247352..1249824-chr6:76310629..76312777,2	MCF-7	breast:
8	chr6:76301594..76304347-chr6:76310698..76312348,3	MCF-7	breast:
9	chr19:13263750..13264527-chr6:76311154..76312072,2	Hela-S3	cervix:
10	chr1:149223806..149225375-chr6:76310132..76311971,2	MCF-7	breast:
11	chr6:75993176..75995308-chr6:76310710..76312367,2	MCF-7	breast:
12	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
13	chr6:75953153..75955682-chr6:76309116..76311798,2	K562	blood:
14	chr6:75993142..75995708-chr6:76310246..76313188,4	K562	blood:
15	chr20:37554612..37555527-chr6:76311330..76312268,2	Hela-S3	cervix:
16	chr6:76300158..76302964-chr6:76309745..76311544,2	K562	blood:
17	chr6:76310839..76313480-chr6:76354672..76356986,2	MCF-7	breast:
18	chr6:74405547..74407236-chr6:76311267..76312799,2	MCF-7	breast:
19	chr6:76310342..76312305-chr6:76373129..76377244,3	K562	blood:

Variant related genes	Relation type
SENP6	TF binding region
ENSG00000112701	Chromatin interaction
ENSG00000156535	Chromatin interaction
ENSG00000229862	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000225793	Chromatin interaction
ENSG00000169715	Chromatin interaction
ENSG00000252137	Chromatin interaction
ENSG00000112695	Chromatin interaction
ENSG00000196586	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000101447	Chromatin interaction
ENSG00000112697	Chromatin interaction
ENSG00000231652	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	esv3372148	chr6:76310257-76313105	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs111525008	SENP6	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76310400-76314000	Active TSS	Brain Germinal Matrix	brain
2	chr6:76310400-76314400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:76310600-76311600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:76310600-76313400	Active TSS	Brain Cingulate Gyrus	brain
5	chr6:76310600-76313800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:76310600-76313800	Active TSS	Psoas Muscle	Psoas
7	chr6:76310600-76314000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:76310600-76314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:76310600-76314200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:76310800-76312400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr6:76310800-76312400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:76310800-76312600	Active TSS	Thymus	Thymus
13	chr6:76310800-76313200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:76310800-76313200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:76310800-76313400	Active TSS	Fetal Thymus	thymus
16	chr6:76310800-76313400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:76310800-76313600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:76310800-76313600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:76310800-76313600	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr6:76310800-76313600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:76310800-76313600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:76310800-76313600	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:76310800-76313800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:76310800-76314000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:76310800-76314000	Active TSS	Brain Angular Gyrus	brain
26	chr6:76310800-76314000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:76310800-76314000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:76310800-76314000	Active TSS	Fetal Brain Female	brain
29	chr6:76310800-76314000	Active TSS	A549	lung
30	chr6:76310800-76314200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:76310800-76314200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:76310800-76314200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:76310800-76314200	Active TSS	HSMM	muscle
34	chr6:76310800-76314400	Active TSS	Stomach Smooth Muscle	stomach
35	chr6:76310800-76317600	Active TSS	GM12878-XiMat	blood
36	chr6:76311000-76311600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:76311000-76311600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:76311000-76311600	Weak transcription	Stomach Mucosa	stomach
39	chr6:76311000-76312200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:76311000-76312200	Active TSS	HepG2	liver
41	chr6:76311000-76312400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:76311000-76312600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:76311000-76312600	Active TSS	Liver	Liver
44	chr6:76311000-76312800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:76311000-76312800	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:76311000-76313000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr6:76311000-76313200	Active TSS	Brain Anterior Caudate	brain
48	chr6:76311000-76313200	Active TSS	Dnd41	blood
49	chr6:76311000-76313400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:76311000-76313400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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