Variant report

Variant	rs17104399
Chromosome Location	chr14:21852376-21852377
allele	A/C
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	ZNF143	chr14:21852150-21852546	Hela-S3	cervix:	n/a	n/a
2	FOXA2	chr14:21852029-21852758	HepG2	liver:	n/a	chr14:21852326-21852338
3	FOXM1	chr14:21851256-21852733	GM12878	blood:	n/a	n/a
4	MXI1	chr14:21850573-21853541	IMR90	lung:	n/a	n/a
5	GABPA	chr14:21851944-21852559	GM12878	blood:	n/a	chr14:21852213-21852220 chr14:21852524-21852533
6	POLR2A	chr14:21852275-21853046	GM12878	blood:	n/a	n/a
7	CEBPD	chr14:21851894-21852865	HepG2	liver:	n/a	n/a
8	TAF1	chr14:21851974-21852508	PFSK-1	brain:	n/a	n/a
9	MYC	chr14:21852339-21852480	MCF-7	breast:	n/a	chr14:21852408-21852417 chr14:21852408-21852417 chr14:21852408-21852417
10	POLR2A	chr14:21851937-21852786	HCT-116	colon:	n/a	n/a
11	USF1	chr14:21852118-21852656	H1-hESC	embryonic stem cell:	n/a	chr14:21852402-21852423 chr14:21852536-21852552 chr14:21852409-21852418 chr14:21852408-21852417 chr14:21852406-21852419 chr14:21852407-21852416 chr14:21852406-21852417 chr14:21852408-21852417
12	GABPA	chr14:21851402-21852693	A549	lung:	n/a	chr14:21852213-21852220 chr14:21852524-21852533 chr14:21852639-21852653
13	TBL1XR1	chr14:21852048-21852966	K562	blood:	n/a	n/a
14	GABPA	chr14:21851995-21852709	H1-hESC	embryonic stem cell:	n/a	chr14:21852213-21852220 chr14:21852524-21852533 chr14:21852639-21852653
15	E2F6	chr14:21851433-21852919	H1-hESC	embryonic stem cell:	n/a	chr14:21852360-21852368 chr14:21851744-21851756 chr14:21852359-21852369 chr14:21851719-21851730 chr14:21852514-21852524 chr14:21852356-21852370 chr14:21851745-21851756 chr14:21852360-21852368 chr14:21852583-21852592
16	NFIC	chr14:21851164-21852947	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:21851589-21852939	K562	blood:	n/a	n/a
18	POLR2A	chr14:21851312-21853105	K562	blood:	n/a	n/a
19	MYC	chr14:21851584-21852702	K562	blood:	n/a	chr14:21852408-21852417 chr14:21852408-21852417 chr14:21852523-21852533 chr14:21852408-21852417
20	POLR2A	chr14:21851249-21853807	GM12891	blood:	n/a	n/a
21	NR2F2	chr14:21852264-21852871	K562	blood:	n/a	n/a
22	NFATC1	chr14:21852105-21852873	GM12878	blood:	n/a	n/a
23	TCF7L2	chr14:21851773-21852795	HCT-116	colon:	n/a	n/a
24	FOXP2	chr14:21852001-21852750	SK-N-MC	brain:	n/a	chr14:21852326-21852338
25	RELA	chr14:21851213-21852976	GM15510	blood:	n/a	chr14:21851920-21851929 chr14:21851920-21851929
26	USF1	chr14:21851967-21852807	SK-N-SH	brain:	n/a	chr14:21852402-21852423 chr14:21852536-21852552 chr14:21852409-21852418 chr14:21852408-21852417 chr14:21852406-21852419 chr14:21852407-21852416 chr14:21852406-21852417 chr14:21852408-21852417
27	EP300	chr14:21852183-21852470	GM12878	blood:	n/a	chr14:21852305-21852319 chr14:21852185-21852192
28	GABPA	chr14:21851608-21852643	HepG2	liver:	n/a	chr14:21852213-21852220 chr14:21852524-21852533
29	POLR2A	chr14:21851550-21852841	HepG2	liver:	n/a	n/a
30	STAT3	chr14:21852043-21852593	GM12878	blood:	n/a	chr14:21852110-21852124
31	POLR2A	chr14:21851374-21853090	HepG2	liver:	n/a	n/a
32	MAFK	chr14:21851746-21852715	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:21851610-21852995	A549	lung:	n/a	n/a
34	CEBPB	chr14:21851955-21852845	Hela-S3	cervix:	n/a	n/a
35	YY1	chr14:21851984-21852813	ECC-1	luminal epithelium:	n/a	chr14:21852513-21852527
36	RUNX3	chr14:21851251-21852966	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:21851382-21853429	PFSK-1	brain:	n/a	n/a
38	RELA	chr14:21851251-21852847	GM10847	blood:	n/a	chr14:21851920-21851929 chr14:21851920-21851929
39	ZNF143	chr14:21852218-21852737	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF3	chr14:21852229-21852560	H1-hESC	embryonic stem cell:	n/a	chr14:21852408-21852417
41	MAX	chr14:21851148-21852994	SK-N-SH	brain:	n/a	chr14:21851359-21851370 chr14:21851359-21851370 chr14:21852408-21852417 chr14:21851360-21851369 chr14:21852408-21852417 chr14:21852523-21852533 chr14:21852408-21852417 chr14:21851360-21851367
42	GABPA	chr14:21851966-21852517	GM12878	blood:	n/a	chr14:21852213-21852220
43	TAF1	chr14:21852256-21852665	GM12892	blood:	n/a	n/a
44	MAX	chr14:21851358-21852853	HepG2	liver:	n/a	chr14:21851359-21851370 chr14:21851359-21851370 chr14:21852408-21852417 chr14:21851360-21851369 chr14:21852408-21852417 chr14:21852523-21852533 chr14:21852408-21852417 chr14:21851360-21851367
45	NFIC	chr14:21851535-21852922	HepG2	liver:	n/a	n/a
46	HMGN3	chr14:21852140-21852669	K562	blood:	n/a	n/a
47	POLR2A	chr14:21851328-21852787	GM10847	blood:	n/a	n/a
48	FOSL2	chr14:21851424-21852515	A549	lung:	n/a	n/a
49	CHD1	chr14:21850802-21853307	IMR90	lung:	n/a	n/a
50	SP4	chr14:21852098-21852807	H1-hESC	embryonic stem cell:	n/a	chr14:21852520-21852536 chr14:21852522-21852533

No.	Distal block	Cell Line	Cell type
1	chr14:21851720..21852643-chr14:21923813..21924616,2	Hela-S3	cervix:
2	chr14:21731127..21734828-chr14:21850549..21852828,3	K562	blood:
3	chr14:21851475..21856107-chr14:21857808..21863193,8	K562	blood:
4	chr14:21736489..21738626-chr14:21851688..21853909,3	K562	blood:
5	chr14:21791790..21795334-chr14:21849823..21853190,4	MCF-7	breast:
6	chr14:21851980..21852619-chr19:1605260..1605763,2	Hela-S3	cervix:
7	chr14:21850281..21853606-chr14:21922401..21926243,8	K562	blood:
8	chr14:21851876..21853838-chr14:21970156..21972342,2	MCF-7	breast:
9	chr14:21850845..21853690-chr14:21904139..21906102,2	K562	blood:
10	chr10:28821267..28822262-chr14:21851883..21852850,2	Hela-S3	cervix:
11	chr14:21851767..21853944-chr14:21864069..21867044,2	K562	blood:
12	chr14:21737121..21738626-chr14:21850627..21853188,2	K562	blood:
13	chr14:21851767..21854140-chr14:21865544..21868214,2	K562	blood:
14	chr14:21848861..21852877-chr14:21854432..21859173,7	MCF-7	breast:
15	chr14:21850356..21853255-chr14:21861527..21864591,3	MCF-7	breast:
16	chr14:21731892..21738562-chr14:21850801..21854193,10	MCF-7	breast:
17	chr14:21851357..21853196-chr14:21978251..21980149,2	K562	blood:
18	chr14:21851036..21853977-chr14:21924005..21926243,2	K562	blood:
19	chr14:21850062..21853170-chr14:21860085..21862842,3	MCF-7	breast:
20	chr14:21785391..21787053-chr14:21851556..21854033,2	K562	blood:
21	chr14:21851427..21853981-chr14:21978345..21981165,2	MCF-7	breast:
22	chr14:21826480..21828458-chr14:21851122..21853921,3	MCF-7	breast:
23	chr14:21850843..21852612-chr14:21923284..21925387,2	MCF-7	breast:
24	chr14:21537531..21539951-chr14:21850509..21852388,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260830	TF binding region
SUPT16H	TF binding region
ENSG00000092201	Chromatin interaction
ENSG00000241035	Chromatin interaction
ENSG00000095787	Chromatin interaction
ENSG00000267059	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000200785	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000127540	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000199436	Chromatin interaction
ENSG00000092200	Chromatin interaction
ENSG00000254635	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17103671	1.00[AMR][1000 genomes]
rs17104194	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
15	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr14:21849200-21852600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:21850400-21852600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr14:21850400-21852800	Active TSS	GM12878-XiMat	blood
4	chr14:21850400-21853000	Active TSS	K562	blood
5	chr14:21850400-21853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:21850400-21853200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:21850400-21853200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:21850600-21852600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:21850600-21852800	Active TSS	A549	lung
10	chr14:21850600-21853000	Active TSS	Fetal Kidney	kidney
11	chr14:21850600-21853200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:21850800-21852600	Active TSS	HMEC	breast
13	chr14:21850800-21852800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:21850800-21852800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr14:21850800-21853000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:21850800-21853000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:21850800-21853000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:21850800-21853000	Active TSS	NHDF-Ad	bronchial
19	chr14:21850800-21853200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:21850800-21853200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:21850800-21853200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:21850800-21853400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:21850800-21853600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:21851000-21852600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:21851000-21852600	Active TSS	Fetal Muscle Trunk	muscle
26	chr14:21851000-21852600	Active TSS	HSMM	muscle
27	chr14:21851000-21852800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:21851000-21853000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr14:21851000-21853000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:21851000-21853000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:21851000-21853000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:21851000-21853000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:21851000-21853000	Active TSS	Brain Angular Gyrus	brain
34	chr14:21851000-21853000	Active TSS	Fetal Intestine Large	intestine
35	chr14:21851000-21853000	Active TSS	Fetal Stomach	stomach
36	chr14:21851000-21853000	Active TSS	Fetal Thymus	thymus
37	chr14:21851000-21853000	Active TSS	Ovary	ovary
38	chr14:21851000-21853200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr14:21851000-21853200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:21851000-21853200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:21851000-21853200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:21851000-21853200	Active TSS	Psoas Muscle	Psoas
43	chr14:21851000-21853200	Active TSS	Right Atrium	heart
44	chr14:21851000-21853200	Active TSS	Right Ventricle	heart
45	chr14:21851000-21853400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:21851200-21852600	Active TSS	Hela-S3	cervix
47	chr14:21851200-21852600	Bivalent/Poised TSS	HepG2	liver
48	chr14:21851200-21852600	Active TSS	NH-A	brain
49	chr14:21851200-21852600	Active TSS	NHEK	skin
50	chr14:21851200-21852800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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