Variant report

Variant	rs17188491
Chromosome Location	chr6:30293592-30293593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:30293472-30295233	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:30293461-30295372	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:30293445-30295446	H1-hESC	embryonic stem cell:	n/a	n/a
4	IRF1	chr6:30293452-30295054	K562	blood:	n/a	chr6:30293586-30293600 chr6:30293762-30293771
5	NR2F2	chr6:30293163-30295448	K562	blood:	n/a	n/a
6	POU2F2	chr6:30293340-30294025	GM12878	blood:	n/a	chr6:30293360-30293373 chr6:30293683-30293695 chr6:30293551-30293565 chr6:30293362-30293372 chr6:30293576-30293588
7	YY1	chr6:30293485-30295334	K562	blood:	n/a	chr6:30293687-30293698 chr6:30293579-30293588
8	CREB1	chr6:30293262-30295460	K562	blood:	n/a	n/a
9	SMARCB1	chr6:30293582-30295267	Hela-S3	cervix:	n/a	n/a
10	ATF2	chr6:30293556-30294551	H1-hESC	embryonic stem cell:	n/a	n/a
11	PML	chr6:30293432-30294951	K562	blood:	n/a	n/a
12	HCFC1	chr6:30293202-30296043	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr6:30293471-30295382	MCF-7	breast:	n/a	n/a
14	REST	chr6:30293042-30295630	H1-neurons	neurons:	n/a	chr6:30294978-30294996
15	POLR2A	chr6:30293422-30295350	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:30293530-30295264	ECC-1	luminal epithelium:	n/a	n/a
17	TEAD4	chr6:30292886-30294737	K562	blood:	n/a	chr6:30293048-30293057
18	TAF1	chr6:30293462-30295039	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr6:30293355-30295339	H1-neurons	neurons:	n/a	n/a
20	MAX	chr6:30293446-30295329	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:30293413-30295462	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:30293521-30295181	K562	blood:	n/a	n/a
23	POLR2A	chr6:30293548-30295191	GM12878	blood:	n/a	n/a
24	MAX	chr6:30293570-30294603	H1-hESC	embryonic stem cell:	n/a	n/a
25	SIN3AK20	chr6:30293117-30295214	K562	blood:	n/a	n/a
26	RCOR1	chr6:30292988-30295259	K562	blood:	n/a	n/a
27	POLR2A	chr6:30293411-30293797	GM12891	blood:	n/a	n/a
28	POLR2A	chr6:30293334-30295011	GM12878	blood:	n/a	n/a
29	MYC	chr6:30293550-30295013	K562	blood:	n/a	n/a
30	GABPA	chr6:30293539-30295256	K562	blood:	n/a	n/a
31	MAX	chr6:30293361-30295572	HepG2	liver:	n/a	n/a
32	MYC	chr6:30293499-30295155	K562	blood:	n/a	n/a
33	YY1	chr6:30293429-30294051	K562	blood:	n/a	chr6:30293687-30293698 chr6:30293579-30293588
34	POLR2A	chr6:30293525-30295264	GM12878	blood:	n/a	n/a
35	HDAC2	chr6:30293549-30293983	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:30293571-30294922	HepG2	liver:	n/a	n/a
37	GABPA	chr6:30293400-30295523	MCF-7	breast:	n/a	n/a
38	POLR2A	chr6:30293413-30295368	H1-neurons	neurons:	n/a	n/a
39	MAX	chr6:30293363-30295543	HCT-116	colon:	n/a	n/a
40	USF1	chr6:30293560-30294147	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF2	chr6:30293558-30294207	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr6:30293563-30295394	MCF-7	breast:	n/a	chr6:30295305-30295316 chr6:30295126-30295137
43	POLR2A	chr6:30293552-30295588	PANC-1	pancreas:	n/a	n/a
44	MAX	chr6:30293429-30295391	K562	blood:	n/a	n/a
45	MAZ	chr6:30293448-30295286	K562	blood:	n/a	n/a
46	POLR2A	chr6:30293513-30295321	PFSK-1	brain:	n/a	n/a
47	ZBTB7A	chr6:30293520-30294044	K562	blood:	n/a	n/a
48	MAX	chr6:30293439-30295437	HepG2	liver:	n/a	n/a
49	ELF1	chr6:30293513-30295098	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:30293431-30295355	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30293584-30293634	GM06990	blood:	n/a
2	chr6:30293581-30293631	A549	lung:	n/a
3	chr6:30293581-30293631	U87	brain:	n/a
4	chr6:30293581-30293631	HCT-116	colon:	n/a
5	chr6:30293581-30293631	HEEpiC	esophagus:	n/a
6	chr6:30293581-30293631	AG09319	gingival:	n/a
7	chr6:30293581-30293631	K562	blood:	n/a
8	chr6:30293581-30293631	GM12878	blood:	n/a
9	chr6:30293581-30293631	T-47D	breast:	n/a
10	chr6:30293584-30293634	AG04449	skin:	fetal
11	chr6:30293584-30293634	AG09309	skin:	n/a
12	chr6:30293584-30293634	BE2_C	brain:	n/a
13	chr6:30293584-30293634	U87	brain:	n/a
14	chr6:30293584-30293634	HEK293	kidney:	embryo
15	chr6:30293581-30293631	NHDF-neo	bronchial:	n/a
16	chr6:30293584-30293634	GM12878	blood:	n/a
17	chr6:30293581-30293631	HEK293	kidney:	embryo
18	chr6:30293584-30293634	K562	blood:	n/a
19	chr6:30293581-30293631	HCPEpiC	choroid plexus:	n/a
20	chr6:30293581-30293631	HNPCEpiC	eye:	n/a
21	chr6:30293581-30293631	GM12892	blood:	n/a
22	chr6:30293584-30293634	NHBE	bronchial:	n/a
23	chr6:30293581-30293631	GM06990	blood:	n/a
24	chr6:30293584-30293634	AG04450	lung:	fetal
25	chr6:30293581-30293631	MCF10A-Er-Src	breast:	n/a
26	chr6:30293584-30293634	SK-N-SH	brain:	n/a
27	chr6:30293584-30293634	BJ	skin:	n/a
28	chr6:30293581-30293631	SAEC	small airway:	n/a
29	chr6:30293584-30293634	SK-N-SH_RA	brain:	n/a
30	chr6:30293581-30293631	GM12891	blood:	n/a
31	chr6:30293584-30293634	HEEpiC	esophagus:	n/a
32	chr6:30293581-30293631	Caco-2	colon:	n/a
33	chr6:30293581-30293631	AG04450	lung:	fetal
34	chr6:30293584-30293634	GM12892	blood:	n/a
35	chr6:30293581-30293631	HRCEpiC	kidney:	n/a
36	chr6:30293584-30293634	HIPEpiC	eye:	n/a
37	chr6:30293581-30293631	HL-60	blood:	n/a
38	chr6:30293584-30293634	T-47D	breast:	n/a
39	chr6:30293581-30293631	PrEC	prostate:	n/a
40	chr6:30293581-30293631	NH-A	brain:	n/a
41	chr6:30293581-30293631	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:30293584-30293634	HRE	kidney:	n/a
43	chr6:30293584-30293634	RPTEC	kidney:	n/a
44	chr6:30293584-30293634	GM12891	blood:	n/a
45	chr6:30293581-30293631	SK-N-SH_RA	brain:	n/a
46	chr6:30293584-30293634	HRPEpiC	eye:	n/a
47	chr6:30293584-30293634	Hela-S3	cervix:	n/a
48	chr6:30293584-30293634	PrEC	prostate:	n/a
49	chr6:30293584-30293634	Caco-2	colon:	n/a
50	chr6:30293581-30293631	HRPEpiC	eye:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30171048..30173110-chr6:30293211..30295318,2	MCF-7	breast:
2	chr6:30268695..30274088-chr6:30293337..30295867,6	MCF-7	breast:
3	chr6:30292747..30294944-chr6:30524178..30526358,2	K562	blood:
4	chr6:30292593..30295392-chr6:30331581..30334305,2	MCF-7	breast:
5	chr6:30225449..30228967-chr6:30292795..30296377,4	K562	blood:
6	chr6:30263540..30265858-chr6:30292357..30294554,2	MCF-7	breast:
7	chr6:30293494..30295921-chr6:30584661..30586515,2	K562	blood:
8	chr6:30027269..30029063-chr6:30293187..30296080,2	K562	blood:
9	chr6:30226094..30227681-chr6:30293299..30296159,2	MCF-7	breast:
10	chr19:17516149..17516975-chr6:30293478..30294090,2	Hela-S3	cervix:
11	chr6:30293501..30295806-chr6:30583692..30586477,2	MCF-7	breast:
12	chr6:30293058..30297784-chr6:30308514..30315279,24	MCF-7	breast:
13	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM39	TF binding region
TRIM39-RPP21	TF binding region
TRIM39	CpG island
TRIM39-RPP21	CpG island
ENSG00000204623	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000243753	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000236405	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000269640	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000066379	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1119333	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360034	0.93[ASN][1000 genomes]
rs28360035	0.93[ASN][1000 genomes]
rs61748990	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73429607	0.81[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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30292000-30293600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:30292000-30293600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:30292200-30294000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:30292200-30295200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:30292400-30293600	Enhancers	Spleen	Spleen
6	chr6:30292400-30295200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:30292400-30295200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:30292400-30295400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:30292400-30295800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:30292600-30293600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:30292600-30293800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:30292600-30294200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr6:30292600-30295000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:30292600-30295200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:30292600-30295200	Active TSS	HSMMtube	muscle
16	chr6:30292600-30295400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:30292600-30295400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:30292600-30295600	Active TSS	Esophagus	oesophagus
19	chr6:30292800-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:30292800-30293600	Flanking Active TSS	Liver	Liver
21	chr6:30292800-30293600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr6:30292800-30293600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr6:30292800-30293600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr6:30292800-30293600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr6:30292800-30293600	Flanking Active TSS	Fetal Brain Female	brain
26	chr6:30292800-30293800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr6:30292800-30293800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr6:30292800-30293800	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr6:30292800-30293800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr6:30292800-30294000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:30292800-30294000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:30292800-30294000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:30292800-30294000	Flanking Active TSS	Dnd41	blood
34	chr6:30292800-30294000	Flanking Active TSS	HUVEC	blood vessel
35	chr6:30292800-30294200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr6:30292800-30294200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr6:30292800-30294200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:30292800-30294200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:30292800-30294200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr6:30292800-30294200	Flanking Active TSS	Fetal Thymus	thymus
41	chr6:30292800-30294400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:30292800-30294600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:30292800-30295000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:30292800-30295400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:30292800-30295400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:30292800-30295400	Active TSS	Ovary	ovary
47	chr6:30293000-30293600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr6:30293000-30293600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr6:30293000-30293800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:30293000-30293800	Flanking Active TSS	Brain Hippocampus Middle	brain

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