Variant report

Variant	rs6501477
Chromosome Location	chr17:66432265-66432266
allele	C/G
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	CTCF	chr17:66432180-66432330	GM12871	blood:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
2	CTCF	chr17:66432181-66432398	GM12878	blood:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
3	CTCF	chr17:66432220-66432370	HL-60	blood:	n/a	chr17:66432277-66432286
4	CTCF	chr17:66432220-66432370	HMEC	breast:	n/a	chr17:66432277-66432286
5	CTCF	chr17:66432200-66432350	GM12866	blood:	n/a	chr17:66432277-66432286
6	CTCF	chr17:66432220-66432370	GM12874	blood:	n/a	chr17:66432277-66432286
7	CTCF	chr17:66432240-66432390	HPF	lung:	n/a	chr17:66432277-66432286
8	CTCF	chr17:66432220-66432370	Caco-2	colon:	n/a	chr17:66432277-66432286
9	CTCF	chr17:66432180-66432330	HCPEpiC	choroid plexus:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
10	RAD21	chr17:66432223-66432924	H1-hESC	embryonic stem cell:	n/a	chr17:66432706-66432725 chr17:66432710-66432724
11	CTCF	chr17:66432180-66432330	Hela-S3	cervix:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
12	CTCF	chr17:66432157-66432426	K562	blood:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
13	CTCF	chr17:66432220-66432370	HepG2	liver:	n/a	chr17:66432277-66432286
14	CEBPB	chr17:66432163-66432858	IMR90	lung:	n/a	n/a
15	CTCF	chr17:66432072-66432438	T-47D	breast:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
16	RAD21	chr17:66432102-66432926	IMR90	lung:	n/a	chr17:66432192-66432202 chr17:66432191-66432200 chr17:66432706-66432725 chr17:66432710-66432724 chr17:66432190-66432203 chr17:66432192-66432204
17	SMC3	chr17:66432070-66432922	Hela-S3	cervix:	n/a	chr17:66432710-66432724 chr17:66432273-66432287
18	CTCF	chr17:66432220-66432370	Hela-S3	cervix:	n/a	chr17:66432277-66432286
19	CTCF	chr17:66432180-66432330	GM12865	blood:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
20	CTCF	chr17:66432220-66432370	HPAF	blood vessel:	n/a	chr17:66432277-66432286
21	CTCF	chr17:66432240-66432390	HEK293	kidney:	n/a	chr17:66432277-66432286
22	CTCF	chr17:66432200-66432350	HUVEC	blood vessel:	n/a	chr17:66432277-66432286
23	CTCF	chr17:66432220-66432370	GM12878	blood:	n/a	chr17:66432277-66432286
24	CTCF	chr17:66432200-66432350	GM12873	blood:	n/a	chr17:66432277-66432286
25	CTCF	chr17:66432099-66432526	MCF-7	breast:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
26	CTCF	chr17:66432220-66432370	NB4	blood:	n/a	chr17:66432277-66432286
27	CTCF	chr17:66432144-66432886	Gliobla	brain:	n/a	chr17:66432710-66432723 chr17:66432703-66432724 chr17:66432708-66432726 chr17:66432191-66432201 chr17:66432709-66432725 chr17:66432277-66432286
28	YY1	chr17:66432133-66432446	GM12878	blood:	n/a	n/a
29	CTCF	chr17:66432143-66432435	MCF-7	breast:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
30	TCF12	chr17:66431898-66433022	SK-N-SH	brain:	n/a	chr17:66432326-66432336 chr17:66432328-66432335 chr17:66432330-66432337
31	CTCF	chr17:66432091-66432927	IMR90	lung:	n/a	chr17:66432710-66432723 chr17:66432703-66432724 chr17:66432708-66432726 chr17:66432191-66432201 chr17:66432709-66432725 chr17:66432277-66432286
32	POLR2A	chr17:66431603-66432927	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr17:66432047-66432880	HepG2	liver:	n/a	chr17:66432192-66432202 chr17:66432191-66432200 chr17:66432706-66432725 chr17:66432710-66432724 chr17:66432190-66432203 chr17:66432192-66432204
34	CTCF	chr17:66432109-66432953	A549	lung:	n/a	chr17:66432710-66432723 chr17:66432703-66432724 chr17:66432708-66432726 chr17:66432191-66432201 chr17:66432709-66432725 chr17:66432277-66432286
35	RAD21	chr17:66431734-66432906	MCF-7	breast:	n/a	chr17:66432192-66432202 chr17:66432191-66432200 chr17:66432706-66432725 chr17:66432710-66432724 chr17:66432190-66432203 chr17:66432192-66432204
36	CTCF	chr17:66432200-66432350	SAEC	small airway:	n/a	chr17:66432277-66432286
37	CTCF	chr17:66432260-66432410	AG10803	skin:	n/a	chr17:66432277-66432286
38	RAD21	chr17:66432200-66432360	GM12878	blood:	n/a	n/a
39	CTCF	chr17:66432220-66432370	WERI-Rb-1	eye:	n/a	chr17:66432277-66432286
40	RUNX3	chr17:66432106-66432473	GM12878	blood:	n/a	n/a
41	RAD21	chr17:66431981-66432959	SK-N-SH	brain:	n/a	chr17:66432192-66432202 chr17:66432191-66432200 chr17:66432706-66432725 chr17:66432710-66432724 chr17:66432190-66432203 chr17:66432192-66432204
42	CTCF	chr17:66432200-66432350	GM12878	blood:	n/a	chr17:66432277-66432286
43	CTCF	chr17:66432200-66432350	HPAF	blood vessel:	n/a	chr17:66432277-66432286
44	CTCF	chr17:66432152-66432527	ProgFib	skin:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
45	TAL1	chr17:66432212-66432829	K562	blood:	n/a	n/a
46	CTCF	chr17:66432220-66432370	HEK293	kidney:	n/a	chr17:66432277-66432286
47	GTF2F1	chr17:66432171-66432852	Hela-S3	cervix:	n/a	n/a
48	RUNX3	chr17:66432040-66432473	GM12878	blood:	n/a	n/a
49	CTCF	chr17:66432176-66432366	HepG2	liver:	n/a	chr17:66432191-66432201 chr17:66432277-66432286
50	ZNF143	chr17:66432190-66432864	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66259127..66259715-chr17:66432136..66433016,2	K562	blood:
2	chr1:181057811..181059392-chr17:66430870..66433841,2	MCF-7	breast:
3	chr17:66281429..66283758-chr17:66431266..66432889,2	MCF-7	breast:
4	chr17:66258998..66260173-chr17:66431855..66433167,15	MCF-7	breast:
5	chr17:66347268..66348169-chr17:66431583..66432876,4	MCF-7	breast:
6	chr17:66394860..66395978-chr17:66431794..66432829,4	MCF-7	breast:
7	chr17:66431094..66434502-chr17:66448971..66451470,3	MCF-7	breast:
8	chr17:66286299..66290186-chr17:66430905..66434232,9	MCF-7	breast:
9	chr17:66432226..66434123-chr17:66440350..66443035,2	MCF-7	breast:
10	chr17:66432229..66432762-chr17:66755899..66756497,3	MCF-7	breast:
11	chr17:66168255..66168765-chr17:66432227..66432823,2	MCF-7	breast:
12	chr17:66166380..66167209-chr17:66431862..66432462,2	MCF-7	breast:
13	chr17:66430844..66433732-chr17:66435653..66437723,2	K562	blood:
14	chr17:66432225..66434282-chr17:66453087..66455277,3	MCF-7	breast:
15	chr17:66392741..66399172-chr17:66430612..66434702,5	MCF-7	breast:
16	chr17:66431465..66433732-chr17:66435653..66437245,2	K562	blood:
17	chr17:66258826..66259870-chr17:66431721..66433026,7	MCF-7	breast:
18	chr17:66432081..66434622-chr17:66452871..66454656,2	MCF-7	breast:
19	chr17:66432020..66433251-chr17:66458660..66459719,6	MCF-7	breast:
20	chr17:66426889..66428874-chr17:66430953..66433793,2	K562	blood:
21	chr17:66383531..66384260-chr17:66431940..66432674,2	MCF-7	breast:
22	chr17:66286133..66290612-chr17:66424686..66436118,23	MCF-7	breast:
23	chr17:66334096..66336222-chr17:66430627..66433426,2	MCF-7	breast:
24	chr17:66418699..66423182-chr17:66432036..66435386,4	MCF-7	breast:
25	chr17:66168271..66168898-chr17:66432209..66432781,2	MCF-7	breast:
26	chr17:66430901..66433765-chr17:66455627..66457195,2	K562	blood:
27	chr17:66426481..66429441-chr17:66430953..66434453,4	K562	blood:

Variant related genes	Relation type
WIPI1	TF binding region
ENSG00000070540	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000207561	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2909207	0.88[JPT][hapmap]
rs6501468	0.80[JPT][hapmap]
rs8072338	0.88[JPT][hapmap]

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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:66414600-66432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:66415800-66432400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr17:66415800-66433600	Weak transcription	Small Intestine	intestine
5	chr17:66416000-66432400	Strong transcription	Brain Substantia Nigra	brain
6	chr17:66416000-66432400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:66416200-66432400	Strong transcription	Rectal Smooth Muscle	rectum
8	chr17:66416200-66432600	Strong transcription	Brain Cingulate Gyrus	brain
9	chr17:66416600-66432400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:66417800-66432600	Strong transcription	Fetal Stomach	stomach
11	chr17:66419000-66432400	Strong transcription	Spleen	Spleen
12	chr17:66419400-66432400	Strong transcription	Fetal Intestine Small	intestine
13	chr17:66419400-66432600	Strong transcription	Aorta	Aorta
14	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:66421400-66432400	Strong transcription	Pancreas	Pancrea
17	chr17:66421600-66432600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:66421800-66432400	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr17:66423200-66432600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr17:66424200-66432400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:66424400-66432800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr17:66425400-66433800	Weak transcription	Fetal Kidney	kidney
23	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr17:66426000-66445400	Weak transcription	Brain Germinal Matrix	brain
26	chr17:66426600-66433800	Weak transcription	Fetal Lung	lung
27	chr17:66427400-66433400	Weak transcription	Stomach Mucosa	stomach
28	chr17:66427600-66432400	Weak transcription	Psoas Muscle	Psoas
29	chr17:66428200-66432400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr17:66429000-66432400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:66429600-66439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:66429800-66444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:66430800-66444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:66431000-66433800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr17:66431000-66437000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:66431400-66434000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:66431600-66432400	ZNF genes & repeats	Lung	lung
38	chr17:66431600-66432400	Enhancers	Hela-S3	cervix
39	chr17:66431800-66432400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:66431800-66432600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:66431800-66432600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr17:66431800-66432800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:66431800-66432800	Genic enhancers	NHDF-Ad	bronchial
44	chr17:66431800-66433600	Weak transcription	Fetal Intestine Large	intestine
45	chr17:66431800-66434800	Enhancers	Fetal Thymus	thymus
46	chr17:66432000-66432400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:66432000-66432400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr17:66432000-66432400	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr17:66432000-66432400	Genic enhancers	Esophagus	oesophagus
50	chr17:66432000-66432600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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