Variant report

Variant	rs17182630
Chromosome Location	chr14:66974112-66974113
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	MYC	chr14:66973825-66976185	K562	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
2	TCF7L2	chr14:66974089-66976215	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:66973968-66975421	HepG2	liver:	n/a	n/a
4	MYC	chr14:66973825-66976156	K562	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
5	MAX	chr14:66974046-66975348	HepG2	liver:	n/a	n/a
6	MAX	chr14:66973843-66975795	MCF-7	breast:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
7	JUND	chr14:66974061-66975355	K562	blood:	n/a	chr14:66974412-66974419
8	RELA	chr14:66973862-66975252	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:66973852-66975527	K562	blood:	n/a	n/a
10	MAX	chr14:66973868-66976356	HCT-116	colon:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
11	POLR2A	chr14:66973873-66975538	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr14:66974084-66975922	SK-N-SH	brain:	n/a	chr14:66975591-66975605 chr14:66975241-66975253
13	MAX	chr14:66973852-66976379	GM12878	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
14	MAX	chr14:66973906-66976300	Hela-S3	cervix:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
15	REST	chr14:66974031-66975376	HL-60	blood:	n/a	chr14:66974498-66974508 chr14:66975342-66975351 chr14:66975342-66975355 chr14:66974496-66974510 chr14:66974699-66974719 chr14:66974723-66974736 chr14:66974502-66974515
16	MYC	chr14:66974027-66975221	HepG2	liver:	n/a	n/a
17	HA-E2F1	chr14:66973595-66976318	MCF-7	breast:	n/a	chr14:66974519-66974529 chr14:66974735-66974747 chr14:66974641-66974652
18	NFYA	chr14:66973990-66974800	K562	blood:	n/a	chr14:66974668-66974686
19	SMC3	chr14:66973942-66975241	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:66973966-66976086	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:66973486-66975426	HepG2	liver:	n/a	n/a
22	MYC	chr14:66974099-66975141	MCF-7	breast:	n/a	n/a
23	KAP1	chr14:66973930-66975363	HEK293	kidney:	n/a	chr14:66974181-66974189
24	POLR2A	chr14:66974112-66975091	GM12891	blood:	n/a	n/a
25	TAF1	chr14:66974097-66975567	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:66974023-66976445	H1-neurons	neurons:	n/a	n/a
27	CHD2	chr14:66973971-66974993	H1-hESC	embryonic stem cell:	n/a	n/a
28	HCFC1	chr14:66973970-66975464	K562	blood:	n/a	n/a
29	EGR1	chr14:66974096-66975510	HCT-116	colon:	n/a	chr14:66974828-66974850 chr14:66974519-66974529 chr14:66974833-66974846 chr14:66974832-66974846 chr14:66974833-66974846 chr14:66974832-66974847 chr14:66974834-66974844 chr14:66974833-66974843 chr14:66974834-66974843 chr14:66974834-66974845 chr14:66974833-66974846 chr14:66974519-66974532 chr14:66974834-66974844 chr14:66974833-66974846
30	RUNX3	chr14:66973859-66975991	GM12878	blood:	n/a	n/a
31	SETDB1	chr14:66974059-66975446	K562	blood:	n/a	n/a
32	MAX	chr14:66973909-66975880	HepG2	liver:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
33	HCFC1	chr14:66973820-66976097	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr14:66974099-66975425	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:66973857-66976351	GM12891	blood:	n/a	n/a
36	E2F6	chr14:66973803-66975482	H1-hESC	embryonic stem cell:	n/a	chr14:66974519-66974529 chr14:66974735-66974747 chr14:66974734-66974745
37	MAX	chr14:66973974-66975275	HUVEC	blood vessel:	n/a	n/a
38	SIN3A	chr14:66974072-66976966	GM12878	blood:	n/a	chr14:66976874-66976883 chr14:66975342-66975355 chr14:66974495-66974509
39	POLR2A	chr14:66973975-66975439	GM12878	blood:	n/a	n/a
40	YY1	chr14:66973972-66976072	GM12878	blood:	n/a	chr14:66975591-66975605 chr14:66975241-66975253
41	POLR2A	chr14:66974004-66975394	K562	blood:	n/a	n/a
42	E2F4	chr14:66973987-66975320	MCF10A-Er-Src	breast:	n/a	chr14:66974519-66974529 chr14:66974735-66974747
43	POLR2A	chr14:66973916-66976266	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr14:66974106-66975272	GM12878	blood:	n/a	n/a
45	MXI1	chr14:66974065-66976385	Hela-S3	cervix:	n/a	n/a
46	ZNF263	chr14:66973968-66976350	HEK293-T-REx	kidney:	n/a	chr14:66974764-66974785 chr14:66975400-66975409 chr14:66975317-66975326 chr14:66974770-66974779
47	POLR2A	chr14:66973923-66976336	GM19099	blood:	n/a	n/a
48	POLR2A	chr14:66974090-66976463	H1-neurons	neurons:	n/a	n/a
49	REST	chr14:66973750-66977091	H1-neurons	neurons:	n/a	chr14:66974498-66974508 chr14:66975342-66975351 chr14:66975591-66975604 chr14:66975342-66975355 chr14:66974496-66974510 chr14:66975615-66975628 chr14:66974699-66974719 chr14:66975920-66975940 chr14:66975573-66975586 chr14:66974723-66974736 chr14:66974502-66974515 chr14:66975671-66975684
50	POLR2A	chr14:66974074-66976075	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:66974013..66974724-chr17:45928105..45928845,2	HCT-116	colon:
2	chr1:110880883..110881383-chr14:66973830..66974553,2	Hela-S3	cervix:
3	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
4	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
5	chr1:111745353..111747736-chr14:66972613..66974748,2	MCF-7	breast:
6	chr14:66974095..66974742-chr8:25316233..25316850,2	HCT-116	colon:
7	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000162777	Chromatin interaction
ENSG00000162775	Chromatin interaction
ENSG00000258561	Chromatin interaction
ENSG00000196553	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000184661	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17182574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17780352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72724570	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66973200-66975800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:66973200-66976000	Active TSS	K562	blood
3	chr14:66973400-66974200	Flanking Active TSS	Dnd41	blood
4	chr14:66973400-66974400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr14:66973400-66974600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:66973400-66975200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:66973400-66975600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:66973400-66975800	Active TSS	Colonic Mucosa	Colon
9	chr14:66973400-66976200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:66973400-66976800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:66973600-66974200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:66973600-66974200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:66973600-66974200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:66973600-66974200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr14:66973600-66974200	Flanking Active TSS	NHEK	skin
16	chr14:66973600-66974400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr14:66973600-66974400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr14:66973600-66974400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:66973600-66974400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr14:66973600-66974600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:66973600-66975000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:66973600-66975800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr14:66973600-66976000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:66973600-66976000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:66973600-66976200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:66973600-66976200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:66973600-66976200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:66973600-66976200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr14:66973600-66976400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:66973600-66976400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:66973600-66976400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:66973600-66976600	Active TSS	Colon Smooth Muscle	Colon
33	chr14:66973600-66976600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr14:66973600-66976800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:66973600-66976800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:66973600-66976800	Active TSS	NHLF	lung
37	chr14:66973600-66977800	Active TSS	GM12878-XiMat	blood
38	chr14:66973800-66974200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:66973800-66974200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:66973800-66974200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr14:66973800-66974200	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr14:66973800-66974200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr14:66973800-66974200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:66973800-66974200	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr14:66973800-66974200	Flanking Active TSS	Fetal Heart	heart
46	chr14:66973800-66974200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:66973800-66974200	Active TSS	Right Atrium	heart
48	chr14:66973800-66974200	Flanking Active TSS	Thymus	Thymus
49	chr14:66973800-66974200	Flanking Active TSS	HSMMtube	muscle
50	chr14:66973800-66974400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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