Variant report

Variant	rs62005710
Chromosome Location	chr15:74471793-74471794
allele	C/T
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	TFAP2C	chr15:74471553-74472823	Hela-S3	cervix:	n/a	n/a
2	NR3C1	chr15:74471613-74472153	A549	lung:	n/a	chr15:74471709-74471735
3	NR3C1	chr15:74471553-74472114	A549	lung:	n/a	chr15:74471709-74471735
4	NR3C1	chr15:74471656-74472172	ECC-1	luminal epithelium:	n/a	chr15:74471709-74471735
5	TCF12	chr15:74471543-74472367	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr15:74471718-74472064	A549	lung:	n/a	n/a
7	NFIC	chr15:74471553-74472609	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr15:74471524-74472380	SK-N-SH	brain:	n/a	n/a
9	FOS	chr15:74471671-74472159	HUVEC	blood vessel:	n/a	chr15:74471923-74471934
10	SMC3	chr15:74471596-74472278	Hela-S3	cervix:	n/a	n/a
11	MYC	chr15:74471652-74472621	MCF10A-Er-Src	breast:	n/a	n/a
12	RCOR1	chr15:74471644-74472235	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr15:74471633-74472192	Hela-S3	cervix:	n/a	n/a
14	MYC	chr15:74471678-74472084	MCF10A-Er-Src	breast:	n/a	n/a
15	TBP	chr15:74471697-74472287	Hela-S3	cervix:	n/a	n/a
16	RXRA	chr15:74471616-74472691	SK-N-SH	brain:	n/a	n/a
17	TCF7L2	chr15:74471667-74472244	Hela-S3	cervix:	n/a	n/a
18	MAX	chr15:74471537-74472291	SK-N-SH	brain:	n/a	n/a
19	NR3C1	chr15:74471564-74472055	A549	lung:	n/a	chr15:74471709-74471735
20	NR3C1	chr15:74471613-74472081	A549	lung:	n/a	chr15:74471709-74471735
21	STAT3	chr15:74471595-74472092	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA3	chr15:74471562-74472298	A549	lung:	n/a	n/a
23	USF1	chr15:74471565-74471843	A549	lung:	n/a	n/a
24	MXI1	chr15:74471790-74472224	Hela-S3	cervix:	n/a	n/a
25	PBX3	chr15:74471667-74472333	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr15:74471487-74472853	A549	lung:	n/a	chr15:74472604-74472614 chr15:74472604-74472614
27	ZBTB7A	chr15:74471321-74472346	ECC-1	luminal epithelium:	n/a	chr15:74471484-74471491
28	EP300	chr15:74471606-74472371	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr15:74471682-74472409	ECC-1	luminal epithelium:	n/a	n/a
30	NR3C1	chr15:74471613-74472084	A549	lung:	n/a	chr15:74471709-74471735
31	JUND	chr15:74471699-74472127	A549	lung:	n/a	n/a
32	TCF12	chr15:74471555-74472474	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr15:74471685-74472299	A549	lung:	n/a	n/a
34	FOSL2	chr15:74471697-74472223	SK-N-SH	brain:	n/a	n/a
35	USF2	chr15:74471465-74472138	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr15:74471569-74472158	Hela-S3	cervix:	n/a	n/a
37	EP300	chr15:74471684-74472205	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr15:74471632-74472054	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr15:74469814-74473399	SK-N-SH	brain:	n/a	chr15:74472604-74472614 chr15:74472604-74472614 chr15:74470403-74470410
40	RAD21	chr15:74471713-74472234	Hela-S3	cervix:	n/a	n/a
41	ELK1	chr15:74471734-74472133	Hela-S3	cervix:	n/a	n/a
42	STAT3	chr15:74471611-74472083	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr15:74471738-74472226	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr15:74471722-74472288	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr15:74471738-74472152	SK-N-SH_RA	brain:	n/a	n/a
46	TCF12	chr15:74471542-74472827	A549	lung:	n/a	chr15:74472614-74472623
47	TEAD4	chr15:74471707-74472262	ECC-1	luminal epithelium:	n/a	n/a
48	SMARCC1	chr15:74471538-74472549	Hela-S3	cervix:	n/a	n/a
49	NFIC	chr15:74471656-74472413	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr15:74471570-74472526	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74471188..74474733-chr15:74480852..74485546,5	MCF-7	breast:
2	chr15:74466900..74472644-chr15:74474380..74478364,5	K562	blood:
3	chr15:74466900..74472029-chr15:74474380..74478364,5	K562	blood:
4	chr15:74466286..74468382-chr15:74470933..74472488,2	MCF-7	breast:
5	chr15:74465289..74467713-chr15:74468699..74473006,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261543	TF binding region
ENSG00000129009	Chromatin interaction
ENSG00000137868	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11630317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11630924	0.88[EUR][1000 genomes]
rs11631509	0.85[EUR][1000 genomes]
rs11631944	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11639090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11639369	0.88[EUR][1000 genomes]
rs11854957	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11855667	0.86[EUR][1000 genomes]
rs11857410	0.88[EUR][1000 genomes]
rs12899173	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12907503	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12911581	0.84[EUR][1000 genomes]
rs12912258	0.88[EUR][1000 genomes]
rs12912578	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12913041	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12915891	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13259	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2062309	0.96[EUR][1000 genomes]
rs2415169	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2899824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34147822	0.88[EUR][1000 genomes]
rs34573746	0.88[EUR][1000 genomes]
rs34868798	0.97[EUR][1000 genomes]
rs351242	0.83[EUR][1000 genomes]
rs35255788	0.88[EUR][1000 genomes]
rs35462746	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35661273	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3848160	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3848161	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3888004	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs409856	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62003660	0.88[EUR][1000 genomes]
rs62003661	0.85[EUR][1000 genomes]
rs62005707	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62005709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62005711	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71399778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733163	0.88[EUR][1000 genomes]
rs8037531	0.97[EUR][1000 genomes]
rs923118	0.97[EUR][1000 genomes]
rs9630417	0.96[EUR][1000 genomes]
rs971755	0.88[EUR][1000 genomes]
rs971756	0.88[EUR][1000 genomes]
rs971757	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74464800-74473600	Enhancers	Right Ventricle	heart
2	chr15:74465200-74472200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:74465200-74473000	Enhancers	Brain Germinal Matrix	brain
4	chr15:74466000-74472000	Enhancers	Placenta	Placenta
5	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:74466600-74473200	Enhancers	HSMMtube	muscle
7	chr15:74466600-74480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:74467200-74473600	Enhancers	Right Atrium	heart
9	chr15:74467400-74472200	Weak transcription	Pancreas	Pancrea
10	chr15:74467400-74473400	Genic enhancers	Fetal Stomach	stomach
11	chr15:74467400-74473800	Enhancers	NHDF-Ad	bronchial
12	chr15:74467600-74473200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:74467800-74472400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:74467800-74473600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:74468000-74472200	Weak transcription	Gastric	stomach
16	chr15:74468400-74473400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr15:74468400-74473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:74468600-74473200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:74468600-74473600	Enhancers	NH-A	brain
20	chr15:74469000-74472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:74469000-74472800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:74469000-74473200	Enhancers	NHLF	lung
23	chr15:74469200-74471800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr15:74469200-74472200	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:74469200-74473200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:74469200-74474000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:74469600-74472200	Enhancers	Osteobl	bone
31	chr15:74469800-74472200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:74470000-74472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:74470000-74472600	Enhancers	Brain Angular Gyrus	brain
34	chr15:74470000-74473000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:74470000-74473400	Enhancers	HUVEC	blood vessel
36	chr15:74470000-74473800	Enhancers	Left Ventricle	heart
37	chr15:74470200-74472000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:74470400-74472000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:74470600-74471800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:74470600-74473600	Enhancers	Ovary	ovary
41	chr15:74470600-74474000	Enhancers	Lung	lung
42	chr15:74470600-74475600	Weak transcription	Fetal Kidney	kidney
43	chr15:74470600-74484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:74471000-74471800	Weak transcription	Fetal Brain Female	brain
46	chr15:74471000-74473600	Enhancers	Fetal Muscle Leg	muscle
47	chr15:74471200-74472400	Flanking Active TSS	Hela-S3	cervix
48	chr15:74471200-74472800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr15:74471200-74473600	Enhancers	Fetal Thymus	thymus
50	chr15:74471200-74473600	Enhancers	HMEC	breast

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