Variant report

Variant	rs71563362
Chromosome Location	chr6:31634705-31634706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr6:31632027-31634910	Hela-S3	cervix:	n/a	n/a
2	WRNIP1	chr6:31634526-31634795	GM12878	blood:	n/a	n/a
3	CBX3	chr6:31631090-31634828	K562	blood:	n/a	chr6:31632567-31632578
4	ZNF263	chr6:31633964-31634735	HEK293-T-REx	kidney:	n/a	chr6:31634067-31634076 chr6:31634529-31634538
5	STAT1	chr6:31634700-31634712	GM12878	blood:	n/a	n/a
6	TEAD4	chr6:31630958-31634869	K562	blood:	n/a	n/a
7	SREBP1	chr6:31631677-31634839	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:31631018-31634754	K562	blood:	n/a	n/a
9	NR2F2	chr6:31630978-31634983	K562	blood:	n/a	n/a
10	MXI1	chr6:31631196-31634835	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:31632336-31634758	K562	blood:	n/a	n/a
12	PML	chr6:31630913-31634907	K562	blood:	n/a	chr6:31633746-31633754
13	MXI1	chr6:31630923-31635044	IMR90	lung:	n/a	n/a
14	SIN3AK20	chr6:31632383-31634779	K562	blood:	n/a	n/a
15	ELF1	chr6:31632491-31634841	K562	blood:	n/a	chr6:31632674-31632685 chr6:31633639-31633652
16	MAZ	chr6:31631178-31634727	IMR90	lung:	n/a	chr6:31634058-31634068 chr6:31634235-31634244
17	HEY1	chr6:31629512-31635000	K562	blood:	n/a	n/a
18	MAX	chr6:31631363-31634716	K562	blood:	n/a	chr6:31634058-31634068 chr6:31634235-31634244
19	MAX	chr6:31631554-31634719	HepG2	liver:	n/a	chr6:31634058-31634068 chr6:31634235-31634244
20	POLR2A	chr6:31631174-31634974	K562	blood:	n/a	n/a
21	JUN	chr6:31630299-31634993	K562	blood:	n/a	n/a
22	POLR2A	chr6:31634431-31635160	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:31631080-31634737	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31634657-31634707	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:31634657-31634707	NH-A	brain:	n/a
3	chr6:31634657-31634707	HMEC	breast:	n/a
4	chr6:31634657-31634707	AG10803	skin:	n/a
5	chr6:31634657-31634707	NHDF-neo	bronchial:	n/a
6	chr6:31634657-31634707	A549	lung:	n/a
7	chr6:31634657-31634707	GM06990	blood:	n/a
8	chr6:31634657-31634707	SK-N-SH	brain:	n/a
9	chr6:31634657-31634707	SK-N-SH_RA	brain:	n/a
10	chr6:31634657-31634707	CMK	blood:	n/a
11	chr6:31634657-31634707	NHBE	bronchial:	n/a
12	chr6:31634657-31634707	RPTEC	kidney:	n/a
13	chr6:31634657-31634707	Caco-2	colon:	n/a
14	chr6:31634657-31634707	HRPEpiC	eye:	n/a
15	chr6:31634657-31634707	MCF10A-Er-Src	breast:	n/a
16	chr6:31634657-31634707	ovcar-3	ovarian:	n/a
17	chr6:31634657-31634707	ECC-1	luminal epithelium:	n/a
18	chr6:31634657-31634707	PrEC	prostate:	n/a
19	chr6:31634657-31634707	ProgFib	skin:	n/a
20	chr6:31634657-31634707	BJ	skin:	n/a
21	chr6:31634657-31634707	AG04450	lung:	fetal
22	chr6:31634657-31634707	AG09319	gingival:	n/a
23	chr6:31634657-31634707	HEK293	kidney:	embryo
24	chr6:31634657-31634707	PFSK-1	brain:	n/a
25	chr6:31634657-31634707	LNCaP	prostate:	n/a
26	chr6:31634657-31634707	SKMC	muscle:	n/a
27	chr6:31634657-31634707	SAEC	small airway:	n/a
28	chr6:31634657-31634707	HCF	heart:	n/a
29	chr6:31634657-31634707	H1-hESC	embryonic stem cell:	embryo
30	chr6:31634657-31634707	Hepatocyte	liver:	n/a
31	chr6:31634657-31634707	MCF-7	breast:	n/a
32	chr6:31634657-31634707	SK-N-MC	brain:	n/a
33	chr6:31634657-31634707	HCT-116	colon:	n/a
34	chr6:31634657-31634707	GM12891	blood:	n/a
35	chr6:31634657-31634707	HCM	heart:	n/a
36	chr6:31634657-31634707	HCPEpiC	choroid plexus:	n/a
37	chr6:31634657-31634707	GM19239	blood:	n/a
38	chr6:31634657-31634707	AG04449	skin:	fetal
39	chr6:31634657-31634707	GM12892	blood:	n/a
40	chr6:31634657-31634707	HRE	kidney:	n/a
41	chr6:31634657-31634707	IMR90	lung:	fetal
42	chr6:31634657-31634707	NT2-D1	testis:	n/a
43	chr6:31634657-31634707	HAEpiC	amniotic membrane:	n/a
44	chr6:31634657-31634707	HUVEC	blood vessel:	n/a
45	chr6:31634657-31634707	NB4	blood:	n/a
46	chr6:31634657-31634707	PANC-1	pancreas:	n/a
47	chr6:31634657-31634707	U87	brain:	n/a
48	chr6:31634657-31634707	Jurkat	blood:	n/a
49	chr6:31634657-31634707	HEEpiC	esophagus:	n/a
50	chr6:31634657-31634707	T-47D	breast:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31630209..31635577-chr6:31828786..31834874,28	K562	blood:
2	chr6:31506496..31512275-chr6:31630248..31634828,11	K562	blood:
3	chr6:31631384..31635745-chr6:32161942..32163949,3	K562	blood:
4	chr6:31630940..31635916-chr6:31782579..31784659,6	MCF-7	breast:
5	chr6:31632734..31637057-chr6:31703384..31706202,6	MCF-7	breast:
6	chr6:31632296..31634965-chr6:31685541..31687886,2	MCF-7	breast:
7	chr6:31632664..31635327-chr6:31741807..31745187,4	MCF-7	breast:
8	chr6:31633268..31634831-chr6:31923010..31925307,2	K562	blood:
9	chr6:31630921..31635353-chr6:31802314..31807064,6	MCF-7	breast:
10	chr6:31505350..31512312-chr6:31630543..31635379,11	K562	blood:
11	chr6:31634033..31636196-chr6:31925448..31927170,2	K562	blood:
12	chr6:31586074..31595285-chr6:31626460..31635395,11	MCF-7	breast:
13	chr6:31632061..31634821-chr6:31925160..31927798,3	MCF-7	breast:
14	chr6:31627970..31635325-chr6:31864036..31871429,12	K562	blood:
15	chr6:31633157..31635292-chr6:31669573..31672337,3	MCF-7	breast:
16	chr6:31630694..31635339-chr6:31828920..31834068,22	K562	blood:
17	chr6:31632965..31635691-chr6:31725815..31728371,2	MCF-7	breast:
18	chr6:31515059..31516873-chr6:31633066..31634969,2	MCF-7	breast:
19	chr6:31511934..31514047-chr6:31634162..31636336,2	MCF-7	breast:
20	chr6:31634144..31634878-chr6:31647773..31648726,2	K562	blood:
21	chr6:31633131..31635177-chr6:31694151..31697063,2	MCF-7	breast:
22	chr6:31507927..31511187-chr6:31633283..31638231,4	MCF-7	breast:
23	chr6:31632814..31634832-chr6:31706820..31709460,2	MCF-7	breast:
24	chr6:31512487..31516692-chr6:31630820..31634965,11	K562	blood:

No data

Variant related genes	Relation type
LY6G5B	TF binding region
ENSG00000263020	TF binding region
GPANK1	TF binding region
LY6G5B	CpG island
ENSG00000263020	CpG island
GPANK1	CpG island
ENSG00000204385	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204420	Chromatin interaction
ENSG00000213654	Chromatin interaction
ENSG00000221267	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000200816	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000204371	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11552113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194402	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13204983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211189	0.83[ASN][1000 genomes]
rs13211368	0.83[ASN][1000 genomes]
rs17200810	0.83[ASN][1000 genomes]
rs3093672	0.83[ASN][1000 genomes]
rs34038095	1.00[ASN][1000 genomes]
rs34287387	1.00[ASN][1000 genomes]
rs34422607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451538	0.83[ASN][1000 genomes]
rs34568880	0.83[ASN][1000 genomes]
rs35012663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35340190	0.83[ASN][1000 genomes]
rs35700586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963002	0.83[ASN][1000 genomes]
rs35969216	0.83[ASN][1000 genomes]
rs41267058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273252	0.83[ASN][1000 genomes]
rs4647191	0.83[ASN][1000 genomes]
rs71563354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
13	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS 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	326 gene(s)	inside rSNPs	diseases
14	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
15	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 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	chr6:31631200-31634800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr6:31631600-31634800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:31631800-31634800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:31632000-31634800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:31632200-31635400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:31632400-31634800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:31632400-31635000	Active TSS	Psoas Muscle	Psoas
8	chr6:31633000-31635000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:31633400-31635000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:31633800-31635000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
11	chr6:31634000-31634800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr6:31634000-31635000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr6:31634000-31635000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr6:31634000-31635600	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr6:31634200-31634800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr6:31634200-31634800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr6:31634200-31634800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:31634200-31634800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr6:31634200-31634800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:31634200-31634800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr6:31634200-31634800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr6:31634200-31634800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr6:31634200-31634800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:31634200-31634800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr6:31634200-31634800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr6:31634200-31634800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:31634200-31634800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr6:31634200-31634800	Flanking Active TSS	Fetal Brain Male	brain
29	chr6:31634200-31634800	Flanking Active TSS	Fetal Lung	lung
30	chr6:31634200-31634800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:31634200-31634800	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr6:31634200-31634800	Active TSS	Right Atrium	heart
33	chr6:31634200-31634800	Flanking Active TSS	Spleen	Spleen
34	chr6:31634200-31634800	Flanking Active TSS	HUVEC	blood vessel
35	chr6:31634200-31634800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:31634200-31635000	Flanking Active TSS	Liver	Liver
37	chr6:31634200-31635000	Flanking Active TSS	Fetal Brain Female	brain
38	chr6:31634200-31635000	Flanking Active TSS	Thymus	Thymus
39	chr6:31634200-31635000	Flanking Active TSS	Osteobl	bone
40	chr6:31634200-31640000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:31634400-31634800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:31634400-31634800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:31634400-31634800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:31634400-31634800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:31634400-31634800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:31634400-31634800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:31634400-31634800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:31634400-31634800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:31634400-31634800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:31634400-31634800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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