Variant report

Variant	rs1706815
Chromosome Location	chr15:45458935-45458936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45458747-45459875	GM15510	blood:	n/a	n/a
2	POLR2A	chr15:45458718-45459969	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:45458818-45459769	GM10847	blood:	n/a	n/a
4	E2F6	chr15:45458849-45459462	K562	blood:	n/a	chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160 chr15:45459147-45459158
5	POLR2A	chr15:45458843-45459910	HL-60	blood:	n/a	n/a
6	POLR2A	chr15:45458757-45459889	GM12892	blood:	n/a	n/a
7	POLR2A	chr15:45458774-45459931	K562	blood:	n/a	n/a
8	ELF1	chr15:45458898-45459334	HepG2	liver:	n/a	chr15:45459154-45459163 chr15:45459120-45459132
9	POLR2A	chr15:45458665-45459281	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:45458673-45459854	GM19193	blood:	n/a	n/a
11	MAX	chr15:45458676-45459965	K562	blood:	n/a	chr15:45459166-45459182
12	POLR2A	chr15:45456792-45459932	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr15:45458711-45459823	GM12892	blood:	n/a	n/a
14	GTF2F1	chr15:45458725-45459854	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr15:45458710-45459921	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F1	chr15:45458798-45459678	Hela-S3	cervix:	n/a	chr15:45459148-45459159 chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160
17	POLR2A	chr15:45458825-45459951	PBDE	blood:	n/a	n/a
18	MAX	chr15:45458696-45459980	HepG2	liver:	n/a	chr15:45459166-45459182
19	POLR2A	chr15:45458586-45459995	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr15:45458622-45459982	HepG2	liver:	n/a	n/a
21	RUNX3	chr15:45458850-45459967	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:45458894-45459615	A549	lung:	n/a	n/a
23	MAZ	chr15:45458538-45460756	IMR90	lung:	n/a	chr15:45459166-45459182 chr15:45460742-45460751
24	POLR2A	chr15:45458927-45459839	U87	brain:	n/a	n/a
25	YY1	chr15:45458698-45459585	HepG2	liver:	n/a	chr15:45459152-45459166 chr15:45459127-45459136 chr15:45459122-45459136 chr15:45459121-45459135 chr15:45459154-45459163
26	CCNT2	chr15:45458624-45459873	K562	blood:	n/a	n/a
27	UBTF	chr15:45458802-45459960	K562	blood:	n/a	n/a
28	HCFC1	chr15:45458524-45460283	Hela-S3	cervix:	n/a	n/a
29	TBP	chr15:45458641-45459913	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:45458618-45459807	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:45458762-45459940	PANC-1	pancreas:	n/a	n/a
32	TCF3	chr15:45458763-45459339	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:45458910-45459866	K562	blood:	n/a	n/a
34	POLR2A	chr15:45458835-45459917	H1-neurons	neurons:	n/a	n/a
35	E2F4	chr15:45458749-45459619	MCF10A-Er-Src	breast:	n/a	chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160 chr15:45459147-45459158
36	HA-E2F1	chr15:45458720-45459667	MCF-7	breast:	n/a	chr15:45459148-45459159 chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160
37	MAZ	chr15:45458787-45459941	Hela-S3	cervix:	n/a	chr15:45459166-45459182
38	POLR2A	chr15:45458668-45459906	K562	blood:	n/a	n/a
39	POLR2A	chr15:45458631-45459959	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:45458600-45459858	GM12878	blood:	n/a	n/a
41	SIN3A	chr15:45458653-45459916	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB7A	chr15:45458824-45458965	HepG2	liver:	n/a	n/a
43	E2F4	chr15:45458725-45459839	K562	blood:	n/a	chr15:45459229-45459238 chr15:45458905-45458914 chr15:45459148-45459160 chr15:45459147-45459158
44	TAF1	chr15:45458782-45459321	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:45458732-45459801	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr15:45458565-45459979	A549	lung:	n/a	chr15:45459166-45459182
47	MAX	chr15:45458903-45459443	SK-N-SH	brain:	n/a	chr15:45459166-45459182
48	FOXA1	chr15:45458668-45459393	HepG2	liver:	n/a	n/a
49	POLR2A	chr15:45458772-45459810	MCF-7	breast:	n/a	n/a
50	MAZ	chr15:45458775-45459946	K562	blood:	n/a	chr15:45459166-45459182

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45458906-45458956	LNCaP	prostate:	n/a
2	chr15:45458906-45458956	CMK	blood:	n/a
3	chr15:45458906-45458956	HCT-116	colon:	n/a
4	chr15:45458906-45458956	NHBE	bronchial:	n/a
5	chr15:45458906-45458956	HRCEpiC	kidney:	n/a
6	chr15:45458906-45458956	SKMC	muscle:	n/a
7	chr15:45458906-45458956	AG09309	skin:	n/a
8	chr15:45458906-45458956	SK-N-SH_RA	brain:	n/a
9	chr15:45458906-45458956	HCF	heart:	n/a
10	chr15:45458906-45458956	HRE	kidney:	n/a
11	chr15:45458906-45458956	IMR90	lung:	fetal
12	chr15:45458906-45458956	HEK293	kidney:	embryo
13	chr15:45458906-45458956	AG09319	gingival:	n/a
14	chr15:45458906-45458956	SK-N-MC	brain:	n/a
15	chr15:45458906-45458956	Jurkat	blood:	n/a
16	chr15:45458906-45458956	GM12878	blood:	n/a
17	chr15:45458906-45458956	U87	brain:	n/a
18	chr15:45458906-45458956	Hepatocyte	liver:	n/a
19	chr15:45458906-45458956	HNPCEpiC	eye:	n/a
20	chr15:45458906-45458956	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:45458906-45458956	PrEC	prostate:	n/a
22	chr15:45458906-45458956	ECC-1	luminal epithelium:	n/a
23	chr15:45458906-45458956	AG04450	lung:	fetal
24	chr15:45458906-45458956	HL-60	blood:	n/a
25	chr15:45458906-45458956	AG04449	skin:	fetal
26	chr15:45458906-45458956	GM06990	blood:	n/a
27	chr15:45458906-45458956	HEEpiC	esophagus:	n/a
28	chr15:45458906-45458956	HMEC	breast:	n/a
29	chr15:45458906-45458956	ovcar-3	ovarian:	n/a
30	chr15:45458906-45458956	MCF10A-Er-Src	breast:	n/a
31	chr15:45458906-45458956	AG10803	skin:	n/a
32	chr15:45458906-45458956	PFSK-1	brain:	n/a
33	chr15:45458906-45458956	RPTEC	kidney:	n/a
34	chr15:45458906-45458956	NHDF-neo	bronchial:	n/a
35	chr15:45458906-45458956	HCM	heart:	n/a
36	chr15:45458906-45458956	HIPEpiC	eye:	n/a
37	chr15:45458906-45458956	A549	lung:	n/a
38	chr15:45458906-45458956	HRPEpiC	eye:	n/a
39	chr15:45458906-45458956	T-47D	breast:	n/a
40	chr15:45458906-45458956	NB4	blood:	n/a
41	chr15:45458906-45458956	NT2-D1	testis:	n/a
42	chr15:45458906-45458956	GM19239	blood:	n/a
43	chr15:45458906-45458956	HCPEpiC	choroid plexus:	n/a
44	chr15:45458906-45458956	NH-A	brain:	n/a
45	chr15:45458906-45458956	AoSMC	blood vessel:	n/a
46	chr15:45458906-45458956	SK-N-SH	brain:	n/a
47	chr15:45458906-45458956	HepG2	liver:	n/a
48	chr15:45458906-45458956	BJ	skin:	n/a
49	chr15:45458906-45458956	Caco-2	colon:	n/a
50	chr15:45458906-45458956	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
2	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
3	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
4	chr15:45458776..45462841-chr15:45467209..45473486,10	K562	blood:
5	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
6	chr15:45458863..45459698-chr16:30076064..30076687,2	Hela-S3	cervix:
7	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
8	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
9	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
10	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
11	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
12	chr1:28974918..28975657-chr15:45458791..45459483,2	Hela-S3	cervix:
13	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
14	chr15:45457813..45459796-chr15:45472458..45474302,2	MCF-7	breast:
15	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
16	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
17	chr15:45456315..45459130-chr15:45878271..45881206,2	K562	blood:
18	chr15:45458745..45459668-chr6:33393132..33393783,2	NB4	blood:
19	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
20	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
21	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
22	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
23	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000259519	CpG island
ENSG00000260035	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000104164	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1620253	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1648304	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1648307	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1648308	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1648310	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1648312	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1648313	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1648317	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1648318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1706807	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1706808	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706811	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706812	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706813	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1706817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1706820	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1706826	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2162246	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2292468	0.94[EUR][1000 genomes]
rs2458237	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2467819	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2467820	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7169193	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv3323980	chr15:45458085-45460633	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45458000-45459000	Flanking Active TSS	Dnd41	blood
2	chr15:45458000-45459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:45458200-45459000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:45458200-45459200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr15:45458200-45459400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr15:45458200-45459600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:45458400-45459000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr15:45458400-45459200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr15:45458400-45459800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:45458400-45459800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:45458400-45459800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:45458400-45459800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:45458400-45459800	Active TSS	Primary T cells from cord blood	blood
14	chr15:45458400-45459800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:45458400-45459800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:45458400-45460000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr15:45458400-45460000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:45458400-45460200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:45458400-45460200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:45458600-45459000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:45458600-45459000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:45458600-45459000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45458600-45459000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr15:45458600-45459000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:45458600-45459000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:45458600-45459000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:45458600-45459000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:45458600-45459000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:45458600-45459000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr15:45458600-45459000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:45458600-45459000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:45458600-45459000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:45458600-45459000	Flanking Active TSS	Fetal Heart	heart
34	chr15:45458600-45459000	Flanking Active TSS	Fetal Lung	lung
35	chr15:45458600-45459000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr15:45458600-45459000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr15:45458600-45459000	Flanking Active TSS	K562	blood
38	chr15:45458600-45459000	Flanking Active TSS	NH-A	brain
39	chr15:45458600-45459200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr15:45458600-45459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:45458600-45459200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:45458600-45459200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:45458600-45459200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:45458600-45459400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:45458600-45459600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr15:45458600-45459600	Active TSS	Brain Anterior Caudate	brain
47	chr15:45458600-45459600	Active TSS	Placenta	Placenta
48	chr15:45458600-45459600	Flanking Active TSS	NHEK	skin
49	chr15:45458600-45459800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:45458600-45459800	Active TSS	HUES48 Cell Line	embryonic stem cell

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