Variant report

Variant	rs71563350
Chromosome Location	chr6:31506774-31506775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:122)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31506486-31507056	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:31505570-31507667	K562	blood:	n/a	n/a
3	POLR2A	chr6:31506609-31506921	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:31506552-31506957	K562	blood:	n/a	n/a
5	POLR2A	chr6:31505026-31508472	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:31506712-31506990	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:31506424-31507154	K562	blood:	n/a	n/a
8	POLR2A	chr6:31505301-31507731	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr6:31506668-31507086	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:31506161-31507185	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:31505967-31506971	PANC-1	pancreas:	n/a	n/a
12	HEY1	chr6:31506509-31507263	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:31505312-31508500	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:31505892-31507329	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:31505947-31507121	GM12892	blood:	n/a	n/a
16	MYC	chr6:31506662-31506805	MCF10A-Er-Src	breast:	n/a	n/a
17	USF1	chr6:31506717-31506931	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr6:31506089-31508478	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:31506611-31507371	GM12891	blood:	n/a	n/a
20	POLR2A	chr6:31505934-31507183	GM12892	blood:	n/a	n/a
21	HEY1	chr6:31506024-31508418	K562	blood:	n/a	n/a
22	POLR2A	chr6:31506400-31506821	A549	lung:	n/a	n/a
23	POLR2A	chr6:31506295-31508505	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:31505819-31511508	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr6:31506241-31507099	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr6:31506729-31507046	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:31506462-31506915	GM12891	blood:	n/a	n/a
28	POLR2A	chr6:31506567-31507018	K562	blood:	n/a	n/a
29	POLR2A	chr6:31505627-31507017	GM12878	blood:	n/a	n/a
30	USF2	chr6:31506679-31506919	GM12878	blood:	n/a	n/a
31	WRNIP1	chr6:31506440-31507415	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:31506314-31506855	HepG2	liver:	n/a	n/a
33	USF1	chr6:31506695-31506954	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr6:31506397-31507121	GM12891	blood:	n/a	n/a
35	USF2	chr6:31506718-31506870	HepG2	liver:	n/a	n/a
36	MXI1	chr6:31506645-31506905	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:31506246-31507453	HepG2	liver:	n/a	n/a
38	MXI1	chr6:31506744-31506835	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31506768-31506818	AG09309	skin:	n/a
2	chr6:31506774-31506824	U87	brain:	n/a
3	chr6:31506774-31506824	SKMC	muscle:	n/a
4	chr6:31506768-31506818	NHDF-neo	bronchial:	n/a
5	chr6:31506768-31506818	SK-N-MC	brain:	n/a
6	chr6:31506774-31506824	AG09309	skin:	n/a
7	chr6:31506774-31506824	BE2_C	brain:	n/a
8	chr6:31506768-31506818	PFSK-1	brain:	n/a
9	chr6:31506768-31506818	RPTEC	kidney:	n/a
10	chr6:31506774-31506824	PrEC	prostate:	n/a
11	chr6:31506768-31506818	HEEpiC	esophagus:	n/a
12	chr6:31506774-31506824	AG04450	lung:	fetal
13	chr6:31506768-31506818	MCF10A-Er-Src	breast:	n/a
14	chr6:31506774-31506824	HepG2	liver:	n/a
15	chr6:31506774-31506824	MCF-7	breast:	n/a
16	chr6:31506774-31506824	Hela-S3	cervix:	n/a
17	chr6:31506774-31506824	Hepatocyte	liver:	n/a
18	chr6:31506774-31506824	HCF	heart:	n/a
19	chr6:31506768-31506818	ovcar-3	ovarian:	n/a
20	chr6:31506774-31506824	HIPEpiC	eye:	n/a
21	chr6:31506774-31506824	NHDF-neo	bronchial:	n/a
22	chr6:31506774-31506824	PFSK-1	brain:	n/a
23	chr6:31506768-31506818	K562	blood:	n/a
24	chr6:31506768-31506818	HCPEpiC	choroid plexus:	n/a
25	chr6:31506774-31506824	SK-N-SH_RA	brain:	n/a
26	chr6:31506768-31506818	PANC-1	pancreas:	n/a
27	chr6:31506768-31506818	A549	lung:	n/a
28	chr6:31506774-31506824	HL-60	blood:	n/a
29	chr6:31506768-31506818	HEK293	kidney:	embryo
30	chr6:31506774-31506824	HUVEC	blood vessel:	n/a
31	chr6:31506774-31506824	BJ	skin:	n/a
32	chr6:31506768-31506818	HRPEpiC	eye:	n/a
33	chr6:31506768-31506818	SKMC	muscle:	n/a
34	chr6:31506774-31506824	NHBE	bronchial:	n/a
35	chr6:31506768-31506818	Hepatocyte	liver:	n/a
36	chr6:31506768-31506818	NB4	blood:	n/a
37	chr6:31506774-31506824	GM12891	blood:	n/a
38	chr6:31506768-31506818	NH-A	brain:	n/a
39	chr6:31506774-31506824	ovcar-3	ovarian:	n/a
40	chr6:31506774-31506824	GM12892	blood:	n/a
41	chr6:31506774-31506824	HCT-116	colon:	n/a
42	chr6:31506768-31506818	GM12878	blood:	n/a
43	chr6:31506774-31506824	ProgFib	skin:	n/a
44	chr6:31506768-31506818	BE2_C	brain:	n/a
45	chr6:31506774-31506824	HEEpiC	esophagus:	n/a
46	chr6:31506774-31506824	HMEC	breast:	n/a
47	chr6:31506768-31506818	SAEC	small airway:	n/a
48	chr6:31506774-31506824	GM06990	blood:	n/a
49	chr6:31506774-31506824	RPTEC	kidney:	n/a
50	chr6:31506774-31506824	PANC-1	pancreas:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31506561..31512642-chr6:31697539..31702106,5	K562	blood:
2	chr6:31506496..31512275-chr6:31630248..31634828,11	K562	blood:
3	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
4	chr6:31504619..31508588-chr6:31538806..31541615,4	K562	blood:
5	chr6:31506740..31512488-chr6:31586502..31592966,30	K562	blood:
6	chr6:31506595..31512441-chr6:31585525..31590767,30	K562	blood:
7	chr6:31506529..31508833-chr6:31606767..31610616,4	K562	blood:
8	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
9	chr6:31505275..31506806-chr6:31571359..31573791,2	K562	blood:
10	chr6:31505350..31512312-chr6:31630543..31635379,11	K562	blood:
11	chr6:31505549..31508168-chr6:31560722..31562471,2	K562	blood:
12	chr6:31506029..31511048-chr6:31626239..31630287,7	MCF-7	breast:
13	chr6:31460486..31468205-chr6:31503942..31512721,23	K562	blood:
14	chr6:31504619..31510971-chr6:31539361..31543067,6	K562	blood:

No data

Variant related genes	Relation type
SNORD117	TF binding region
DDX39B-AS1	TF binding region
DDX39B	TF binding region
DDX39B	CpG island
SNORD117	CpG island
DDX39B-AS1	CpG island
ENSG00000204439	Chromatin interaction
ENSG00000226979	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000201680	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204475	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000200816	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12662306	1.00[AMR][1000 genomes]
rs12665489	1.00[AMR][1000 genomes]
rs12665501	1.00[AMR][1000 genomes]
rs13211189	0.86[ASN][1000 genomes]
rs13211368	0.86[ASN][1000 genomes]
rs17200810	0.86[ASN][1000 genomes]
rs3093672	0.86[ASN][1000 genomes]
rs34451538	0.86[ASN][1000 genomes]
rs34568880	0.86[ASN][1000 genomes]
rs35340190	0.86[ASN][1000 genomes]
rs35963002	0.86[ASN][1000 genomes]
rs35969216	0.86[ASN][1000 genomes]
rs41273252	0.86[ASN][1000 genomes]
rs4647191	0.86[ASN][1000 genomes]

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	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
13	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
14	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
15	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
16	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
17	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
18	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
19	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 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	chr6:31496200-31506800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:31496800-31507800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:31497200-31506800	Strong transcription	Rectal Smooth Muscle	rectum
4	chr6:31497400-31506800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:31497400-31506800	Strong transcription	Colonic Mucosa	Colon
6	chr6:31497400-31506800	Strong transcription	Esophagus	oesophagus
7	chr6:31497400-31506800	Strong transcription	Lung	lung
8	chr6:31497400-31506800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr6:31497600-31506800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:31497600-31506800	Strong transcription	Left Ventricle	heart
11	chr6:31497600-31507200	Strong transcription	HSMMtube	muscle
12	chr6:31497600-31507600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:31497600-31508000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:31497800-31506800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr6:31497800-31506800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:31497800-31506800	Strong transcription	Fetal Intestine Small	intestine
17	chr6:31497800-31507000	Strong transcription	Primary B cells from cord blood	blood
18	chr6:31498200-31506800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr6:31498200-31507600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:31498600-31507000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:31502200-31507200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:31503400-31506800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr6:31503600-31506800	Genic enhancers	HepG2	liver
24	chr6:31503800-31507200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr6:31503800-31508200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
26	chr6:31504400-31507800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:31504400-31508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:31505200-31507400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:31505400-31508000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:31505400-31508400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr6:31505600-31506800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:31505600-31507200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:31505600-31507200	Genic enhancers	Fetal Thymus	thymus
34	chr6:31505600-31507800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:31505600-31508400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:31505600-31508800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:31505800-31506800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr6:31505800-31507000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:31506000-31506800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:31506000-31506800	Genic enhancers	Brain Germinal Matrix	brain
41	chr6:31506000-31506800	Genic enhancers	Duodenum Mucosa	Duodenum
42	chr6:31506000-31506800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:31506000-31507000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:31506000-31507200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:31506000-31507200	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr6:31506000-31507400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:31506000-31507600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:31506000-31507800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr6:31506000-31507800	Genic enhancers	Brain Anterior Caudate	brain
50	chr6:31506000-31507800	Genic enhancers	Brain Hippocampus Middle	brain

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