Variant report

Variant	rs2291014
Chromosome Location	chr15:73996359-73996360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:73996240-73996390	HepG2	liver:	n/a	n/a
2	CTCF	chr15:73996220-73996370	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr15:73996205-73996412	NHEK	skin:	n/a	n/a
4	CTCF	chr15:73996320-73996470	HMEC	breast:	n/a	n/a
5	CTCF	chr15:73996240-73996390	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr15:73996137-73996528	K562	blood:	n/a	n/a
7	CTCF	chr15:73996280-73996430	GM12871	blood:	n/a	n/a
8	CTCF	chr15:73996300-73996450	HEK293	kidney:	n/a	n/a
9	CTCF	chr15:73996237-73996409	A549	lung:	n/a	n/a
10	CTCF	chr15:73996320-73996470	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr15:73996218-73996404	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:73996241-73996416	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr15:73996280-73996430	HCT-116	colon:	n/a	n/a
14	CTCF	chr15:73996260-73996410	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr15:73996217-73996376	Fibrobl	skin:	n/a	n/a
16	CTCF	chr15:73996260-73996410	HEK293	kidney:	n/a	n/a
17	CTCF	chr15:73996229-73996406	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:73996240-73996390	AG09309	skin:	n/a	n/a
19	CTCF	chr15:73996220-73996370	Hela-S3	cervix:	n/a	n/a
20	MYC	chr15:73996245-73996723	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:73996347-73996361	MCF-7	breast:	n/a	n/a
22	RAD21	chr15:73996116-73996464	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:73996300-73996450	NB4	blood:	n/a	n/a
24	CTCF	chr15:73996176-73996431	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:73996171-73996496	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:73996123-73996425	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:73996143-73996419	K562	blood:	n/a	n/a
28	CTCF	chr15:73996250-73996371	Gliobla	brain:	n/a	n/a
29	CTCF	chr15:73996300-73996450	HPAF	blood vessel:	n/a	n/a
30	RAD21	chr15:73996218-73996360	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:73996208-73996365	GM13976	blood:	n/a	n/a
32	CTCF	chr15:73996250-73996390	GM12892	blood:	n/a	n/a
33	CTCF	chr15:73996220-73996370	HCFaa	heart:	n/a	n/a
34	CTCF	chr15:73996320-73996470	Caco-2	colon:	n/a	n/a
35	CTCF	chr15:73996197-73996428	MCF-7	breast:	n/a	n/a
36	CTCF	chr15:73996229-73996401	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:73996169-73996397	K562	blood:	n/a	n/a
38	NR2F2	chr15:73996334-73996624	K562	blood:	n/a	n/a
39	CTCF	chr15:73996260-73996410	GM12872	blood:	n/a	n/a
40	CTCF	chr15:73996237-73996415	GM12891	blood:	n/a	n/a
41	POLR2A	chr15:73996240-73996403	K562	blood:	n/a	n/a
42	CTCF	chr15:73996320-73996470	GM12873	blood:	n/a	n/a
43	CTCF	chr15:73996283-73996402	K562	blood:	n/a	n/a
44	CTCF	chr15:73996340-73996490	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr15:73996260-73996410	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr15:73996085-73996442	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:73996324-73996511	HepG2	liver:	n/a	n/a
48	CTCF	chr15:73996320-73996470	NHEK	skin:	n/a	n/a
49	POLR2A	chr15:73996243-73996486	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73996358-73996408	NHDF-neo	bronchial:	n/a
2	chr15:73996358-73996408	ECC-1	luminal epithelium:	n/a
3	chr15:73996358-73996408	ovcar-3	ovarian:	n/a
4	chr15:73996358-73996408	Caco-2	colon:	n/a
5	chr15:73996358-73996408	HRPEpiC	eye:	n/a
6	chr15:73996358-73996408	MCF10A-Er-Src	breast:	n/a
7	chr15:73996358-73996408	HL-60	blood:	n/a
8	chr15:73996358-73996408	HCM	heart:	n/a
9	chr15:73996358-73996408	IMR90	lung:	fetal
10	chr15:73996358-73996408	Hepatocyte	liver:	n/a
11	chr15:73996358-73996408	AG09319	gingival:	n/a
12	chr15:73996358-73996408	HUVEC	blood vessel:	n/a
13	chr15:73996358-73996408	LNCaP	prostate:	n/a
14	chr15:73996358-73996408	MCF-7	breast:	n/a
15	chr15:73996358-73996408	HCT-116	colon:	n/a
16	chr15:73996358-73996408	SK-N-SH	brain:	n/a
17	chr15:73996358-73996408	GM12892	blood:	n/a
18	chr15:73996358-73996408	PrEC	prostate:	n/a
19	chr15:73996358-73996408	AG10803	skin:	n/a
20	chr15:73996358-73996408	T-47D	breast:	n/a
21	chr15:73996358-73996408	NH-A	brain:	n/a
22	chr15:73996358-73996408	HCF	heart:	n/a
23	chr15:73996358-73996408	PFSK-1	brain:	n/a
24	chr15:73996358-73996408	AoSMC	blood vessel:	n/a
25	chr15:73996358-73996408	H1-hESC	embryonic stem cell:	embryo
26	chr15:73996358-73996408	BJ	skin:	n/a
27	chr15:73996358-73996408	HepG2	liver:	n/a
28	chr15:73996358-73996408	HAEpiC	amniotic membrane:	n/a
29	chr15:73996358-73996408	HRE	kidney:	n/a
30	chr15:73996358-73996408	ProgFib	skin:	n/a
31	chr15:73996358-73996408	GM12878	blood:	n/a
32	chr15:73996358-73996408	NT2-D1	testis:	n/a
33	chr15:73996358-73996408	PANC-1	pancreas:	n/a
34	chr15:73996358-73996408	AG09309	skin:	n/a
35	chr15:73996358-73996408	GM06990	blood:	n/a
36	chr15:73996358-73996408	HMEC	breast:	n/a
37	chr15:73996358-73996408	BE2_C	brain:	n/a
38	chr15:73996358-73996408	NHBE	bronchial:	n/a
39	chr15:73996358-73996408	Jurkat	blood:	n/a
40	chr15:73996358-73996408	AG04450	lung:	fetal
41	chr15:73996358-73996408	SK-N-MC	brain:	n/a
42	chr15:73996358-73996408	HEEpiC	esophagus:	n/a
43	chr15:73996358-73996408	K562	blood:	n/a
44	chr15:73996358-73996408	Hela-S3	cervix:	n/a
45	chr15:73996358-73996408	HCPEpiC	choroid plexus:	n/a
46	chr15:73996358-73996408	AG04449	skin:	fetal
47	chr15:73996358-73996408	SAEC	small airway:	n/a
48	chr15:73996358-73996408	HRCEpiC	kidney:	n/a
49	chr15:73996358-73996408	GM12891	blood:	n/a
50	chr15:73996358-73996408	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:73975489..73977527-chr15:73994222..73997098,2	MCF-7	breast:
2	chr15:73993873..73996840-chr15:74002371..74004783,2	MCF-7	breast:
3	chr15:73996066..73998855-chr15:74002172..74005149,2	MCF-7	breast:

No data

Variant related genes	Relation type
CD276	TF binding region
CD276	CpG island
ENSG00000103855	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10083681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10152645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11552770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574479	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574480	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11574483	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11574484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574490	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636441	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11856313	0.88[JPT][hapmap]
rs1481087	0.88[JPT][hapmap]
rs16957997	0.88[JPT][hapmap]
rs16958019	0.88[JPT][hapmap]
rs16958041	0.88[JPT][hapmap]
rs16958050	0.88[JPT][hapmap]
rs2291012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306462	0.88[JPT][hapmap]
rs2415153	0.88[JPT][hapmap]
rs28506051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640136	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825859	0.85[CEU][hapmap]
rs7161756	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7166673	0.88[JPT][hapmap]
rs7173448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176174	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176484	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176701	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177088	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178806	0.88[JPT][hapmap]
rs7182876	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs729155	0.88[JPT][hapmap]
rs74026250	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8028749	0.88[JPT][hapmap]
rs8038012	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039862	0.88[JPT][hapmap]
rs899271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv3448312	chr15:73995047-73996564	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73978800-74000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:73979400-73996400	Weak transcription	A549	lung
3	chr15:73989600-73996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:73989800-73996400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:73989800-73996800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:73989800-73997000	Weak transcription	Hela-S3	cervix
7	chr15:73989800-74000600	Weak transcription	Esophagus	oesophagus
8	chr15:73989800-74001600	Strong transcription	Fetal Intestine Small	intestine
9	chr15:73989800-74008800	Weak transcription	Small Intestine	intestine
10	chr15:73990000-73997600	Weak transcription	Fetal Kidney	kidney
11	chr15:73990000-73999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:73990000-74012000	Weak transcription	Fetal Brain Male	brain
13	chr15:73990200-74007200	Weak transcription	Stomach Mucosa	stomach
14	chr15:73990200-74007600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:73990400-74007200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:73990400-74007600	Strong transcription	Fetal Stomach	stomach
17	chr15:73990600-73996800	Weak transcription	Fetal Lung	lung
18	chr15:73990600-73999400	Weak transcription	Left Ventricle	heart
19	chr15:73990600-74006600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:73990600-74007400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:73990600-74018800	Weak transcription	Right Atrium	heart
22	chr15:73990800-73996400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:73990800-73996400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:73990800-73997400	Weak transcription	Brain Substantia Nigra	brain
25	chr15:73990800-73997600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:73990800-74009200	Weak transcription	Psoas Muscle	Psoas
27	chr15:73991000-74003400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:73991200-74001600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:73991400-74004800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:73991400-74007200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:73991800-73997000	Weak transcription	HSMMtube	muscle
32	chr15:73992000-73997000	Weak transcription	HSMM	muscle
33	chr15:73992200-74007400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:73992600-73996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:73992600-73997000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:73992600-74000600	Weak transcription	Brain Angular Gyrus	brain
37	chr15:73992600-74002400	Weak transcription	Fetal Heart	heart
38	chr15:73992600-74007400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:73992800-73996400	Weak transcription	Brain Anterior Caudate	brain
40	chr15:73992800-73996600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:73992800-73996600	Weak transcription	HepG2	liver
42	chr15:73992800-73997000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:73992800-73997000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:73992800-73997000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:73992800-73997400	Strong transcription	Fetal Muscle Leg	muscle
46	chr15:73992800-73999000	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:73993000-73996400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:73993000-73996600	Weak transcription	NHDF-Ad	bronchial
49	chr15:73993000-73996800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:73993000-73997000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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