Variant report

Variant	rs67336499
Chromosome Location	chr15:57853203-57853204
allele	A/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	RCOR1	chr15:57853106-57853319	K562	blood:	n/a	n/a
2	CTCF	chr15:57853154-57853701	K562	blood:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
3	RAD21	chr15:57853021-57853824	HCT-116	colon:	n/a	chr15:57853359-57853378
4	RAD21	chr15:57853171-57853529	SK-N-SH_RA	brain:	n/a	chr15:57853359-57853378
5	RFX5	chr15:57853201-57853553	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr15:57853142-57853682	Hela-S3	cervix:	n/a	chr15:57853359-57853378
7	RAD21	chr15:57853068-57853723	A549	lung:	n/a	chr15:57853359-57853378
8	STAT3	chr15:57853201-57853689	GM12878	blood:	n/a	n/a
9	SP1	chr15:57853112-57853983	HCT-116	colon:	n/a	n/a
10	CTCF	chr15:57853115-57853567	ECC-1	luminal epithelium:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
11	CTCF	chr15:57853116-57853514	HepG2	liver:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
12	USF2	chr15:57853164-57853517	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr15:57853202-57853524	T-47D	breast:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
14	CTCF	chr15:57853091-57853615	A549	lung:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
15	RAD21	chr15:57853187-57853582	IMR90	lung:	n/a	chr15:57853359-57853378
16	SMC3	chr15:57853180-57853565	K562	blood:	n/a	chr15:57853360-57853374
17	RUNX3	chr15:57853153-57853586	GM12878	blood:	n/a	n/a
18	RAD21	chr15:57853185-57853590	ECC-1	luminal epithelium:	n/a	chr15:57853359-57853378
19	SMC3	chr15:57852838-57853823	SK-N-SH	brain:	n/a	chr15:57853360-57853374
20	CTCF	chr15:57853165-57853543	H1-hESC	embryonic stem cell:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
21	RAD21	chr15:57852997-57854022	HCT-116	colon:	n/a	chr15:57853006-57853015 chr15:57853359-57853378 chr15:57853864-57853877
22	E2F4	chr15:57853033-57853680	MCF10A-Er-Src	breast:	n/a	chr15:57853620-57853630
23	RAD21	chr15:57853162-57853605	MCF-7	breast:	n/a	chr15:57853359-57853378
24	CTCF	chr15:57853167-57853571	K562	blood:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
25	CTCF	chr15:57852956-57853924	HCT-116	colon:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
26	CTCF	chr15:57853178-57853565	Spleen_OC	spleen:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
27	RAD21	chr15:57853166-57853522	H1-hESC	embryonic stem cell:	n/a	chr15:57853359-57853378
28	RAD21	chr15:57853199-57853588	A549	lung:	n/a	chr15:57853359-57853378
29	RAD21	chr15:57853161-57853576	SK-N-SH_RA	brain:	n/a	chr15:57853359-57853378
30	CTCF	chr15:57853151-57853492	A549	lung:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
31	RAD21	chr15:57853090-57853645	HepG2	liver:	n/a	chr15:57853359-57853378
32	CTCF	chr15:57853155-57853547	K562	blood:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
33	CTCF	chr15:57853123-57853669	IMR90	lung:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
34	CTCF	chr15:57853064-57853658	HCT-116	colon:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
35	CTCF	chr15:57853117-57853592	T-47D	breast:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
36	RAD21	chr15:57853141-57853614	MCF-7	breast:	n/a	chr15:57853359-57853378
37	CTCF	chr15:57853122-57853590	K562	blood:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
38	STAT1	chr15:57853178-57853765	GM12878	blood:	n/a	chr15:57853702-57853710
39	ZNF143	chr15:57853195-57853545	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr15:57852732-57853780	SK-N-SH	brain:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
41	CTCF	chr15:57853140-57853290	A549	lung:	n/a	n/a
42	ZNF143	chr15:57853186-57853582	GM12878	blood:	n/a	n/a
43	RAD21	chr15:57853153-57853583	HepG2	liver:	n/a	chr15:57853359-57853378
44	SMC3	chr15:57853136-57853865	Hela-S3	cervix:	n/a	chr15:57853360-57853374
45	SMC3	chr15:57853158-57853569	HepG2	liver:	n/a	chr15:57853360-57853374
46	CTCF	chr15:57853136-57853681	GM12878	blood:	n/a	chr15:57853360-57853381 chr15:57853358-57853376
47	POLR2A	chr15:57853122-57853989	HUVEC	blood vessel:	n/a	n/a
48	RAD21	chr15:57853199-57853627	GM12878	blood:	n/a	chr15:57853359-57853378
49	RAD21	chr15:57853076-57853625	H1-hESC	embryonic stem cell:	n/a	chr15:57853359-57853378
50	CTCF	chr15:57853182-57853535	SK-N-SH_RA	brain:	n/a	chr15:57853360-57853381 chr15:57853358-57853376

No.	Distal block	Cell Line	Cell type
1	chr15:57850033..57853675-chr15:57854841..57859589,5	K562	blood:
2	chr15:57851773..57853797-chr15:57903678..57905009,17	MCF-7	breast:
3	chr15:57850660..57853481-chr15:57902440..57904405,2	MCF-7	breast:
4	chr15:57852165..57854833-chr15:57859167..57860692,2	MCF-7	breast:
5	chr15:57852740..57853861-chr15:57903786..57904809,7	MCF-7	breast:
6	chr15:57852020..57854891-chr15:57910947..57913888,2	MCF-7	breast:
7	chr15:57852885..57853782-chr15:57947733..57948335,2	MCF-7	breast:
8	chr15:57853056..57853844-chr15:58513573..58514501,2	K562	blood:
9	chr15:57852958..57853665-chr15:57933273..57933872,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240874	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11856	0.83[AMR][1000 genomes]
rs11856674	0.92[ASN][1000 genomes]
rs12439291	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439292	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439665	0.92[ASN][1000 genomes]
rs12439793	0.92[ASN][1000 genomes]
rs1626448	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1630903	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1666572	0.80[EUR][1000 genomes]
rs1666573	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690316	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1690317	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1690318	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16977600	0.83[AFR][1000 genomes]
rs17820431	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820437	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820449	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17820461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17820467	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908191	0.82[EUR][1000 genomes]
rs1908192	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2131730	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131731	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131733	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2270487	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2270488	0.91[ASN][1000 genomes]
rs2279606	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2635389	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2922231	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2922232	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2932208	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2932209	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2934418	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742963	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742964	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774961	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4774962	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916627	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55952634	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56091272	0.81[AFR][1000 genomes]
rs56362917	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59368768	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66802357	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7166305	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171354	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7171360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174359	0.83[AFR][1000 genomes]
rs72741522	0.96[ASN][1000 genomes]
rs72741528	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74018224	0.81[AFR][1000 genomes]
rs8025786	0.94[ASN][1000 genomes]
rs8038795	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs937248	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57844600-57859000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:57844800-57857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:57845200-57857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:57846800-57861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:57847000-57854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:57847200-57853400	Weak transcription	NHEK	skin
7	chr15:57847200-57854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:57847600-57853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:57847600-57854400	Weak transcription	Pancreas	Pancrea
10	chr15:57847600-57859200	Weak transcription	Right Ventricle	heart
11	chr15:57847800-57853600	Weak transcription	Fetal Stomach	stomach
12	chr15:57847800-57859000	Weak transcription	Gastric	stomach
13	chr15:57847800-57859200	Weak transcription	Ovary	ovary
14	chr15:57847800-57859200	Weak transcription	Right Atrium	heart
15	chr15:57850200-57854400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:57851800-57853600	Enhancers	Liver	Liver
17	chr15:57852000-57856400	Enhancers	Stomach Mucosa	stomach
18	chr15:57852200-57853400	Enhancers	Fetal Heart	heart
19	chr15:57852200-57853400	Enhancers	Hela-S3	cervix
20	chr15:57852200-57853400	Enhancers	HUVEC	blood vessel
21	chr15:57852200-57853800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr15:57852200-57854000	Enhancers	A549	lung
23	chr15:57852400-57853600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:57852400-57853600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:57852400-57853800	Enhancers	Fetal Intestine Small	intestine
26	chr15:57852400-57854000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:57852400-57854000	Enhancers	Fetal Intestine Large	intestine
28	chr15:57852400-57855400	Enhancers	Stomach Smooth Muscle	stomach
29	chr15:57852400-57855600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:57852600-57853400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:57852600-57853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:57852800-57853600	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:57853000-57853400	Enhancers	Primary B cells from peripheral blood	blood
34	chr15:57853000-57853600	Enhancers	Adipose Nuclei	Adipose
35	chr15:57853000-57853600	Enhancers	Colon Smooth Muscle	Colon
36	chr15:57853000-57853800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr15:57853000-57854000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:57853200-57853400	Enhancers	Primary hematopoietic stem cells	blood
39	chr15:57853200-57853400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:57853200-57853400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:57853200-57854000	Enhancers	Fetal Muscle Leg	muscle
42	chr15:57853200-57854000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr15:57853200-57854200	Enhancers	HMEC	breast
44	chr15:57853200-57854400	Enhancers	Primary B cells from cord blood	blood
45	chr15:57853200-57854600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:57853200-57855000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:57853200-57856200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:57853200-57856400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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