Variant report

Variant	rs59984712
Chromosome Location	chr14:67826027-67826028
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	CTCF	chr14:67825771-67827860	A549	lung:	n/a	chr14:67826797-67826815 chr14:67826792-67826813 chr14:67826798-67826814
2	POLR2A	chr14:67825964-67827590	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr14:67825767-67827599	ECC-1	luminal epithelium:	n/a	n/a
4	NRF1	chr14:67825457-67827423	SK-N-SH	brain:	n/a	chr14:67827040-67827051 chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827017-67827028 chr14:67827042-67827051
5	JUND	chr14:67825625-67827817	H1-hESC	embryonic stem cell:	n/a	chr14:67827706-67827716 chr14:67827707-67827716 chr14:67827705-67827716 chr14:67827705-67827717 chr14:67827706-67827716 chr14:67827706-67827716 chr14:67827706-67827716
6	NR2F2	chr14:67825978-67827335	MCF-7	breast:	n/a	n/a
7	CHD1	chr14:67824371-67828204	IMR90	lung:	n/a	chr14:67826150-67826157
8	SIN3AK20	chr14:67825921-67827921	MCF-7	breast:	n/a	n/a
9	MXI1	chr14:67825339-67827877	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr14:67825804-67827027	SK-N-SH	brain:	n/a	n/a
11	TAF1	chr14:67825551-67826050	H1-hESC	embryonic stem cell:	n/a	n/a
12	PBX3	chr14:67825851-67826899	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr14:67825881-67827648	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:67825466-67827837	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr14:67825754-67827832	Hela-S3	cervix:	n/a	chr14:67826150-67826157
16	KAT2A	chr14:67825800-67826069	Hela-S3	cervix:	n/a	n/a
17	SMARCC1	chr14:67825734-67827648	Hela-S3	cervix:	n/a	n/a
18	MAZ	chr14:67825893-67826083	HepG2	liver:	n/a	n/a
19	TAF1	chr14:67825978-67827470	SK-N-SH	brain:	n/a	n/a
20	FOSL2	chr14:67826010-67827357	A549	lung:	n/a	n/a
21	HA-E2F1	chr14:67825821-67827800	MCF-7	breast:	n/a	chr14:67827018-67827027 chr14:67827776-67827787 chr14:67827776-67827787 chr14:67826871-67826885 chr14:67826150-67826157
22	MYC	chr14:67825994-67827617	A549	lung:	n/a	n/a
23	SIN3A	chr14:67825467-67827695	H1-hESC	embryonic stem cell:	n/a	n/a
24	RELA	chr14:67826027-67827386	GM19099	blood:	n/a	n/a
25	HCFC1	chr14:67825382-67827870	Hela-S3	cervix:	n/a	n/a
26	TBP	chr14:67825974-67827350	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:67825704-67828181	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr14:67825698-67827793	IMR90	lung:	n/a	chr14:67827706-67827715
29	SIN3AK20	chr14:67825881-67827857	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:67825437-67827776	H1-hESC	embryonic stem cell:	n/a	n/a
31	SIN3AK20	chr14:67825968-67827511	SK-N-SH	brain:	n/a	n/a
32	ELF1	chr14:67826016-67827560	MCF-7	breast:	n/a	chr14:67826577-67826586 chr14:67826571-67826580
33	GABPA	chr14:67826006-67827569	A549	lung:	n/a	chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827042-67827051
34	POLR2A	chr14:67825631-67827746	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:67825601-67827754	IMR90	lung:	n/a	n/a
36	CTCF	chr14:67825940-67826090	HAc	cerebellar:	n/a	n/a
37	ZKSCAN1	chr14:67825754-67827432	Hela-S3	cervix:	n/a	n/a
38	WRNIP1	chr14:67825844-67827752	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:67825979-67827351	SK-N-SH	brain:	n/a	n/a
40	MXI1	chr14:67826002-67827570	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:67825860-67827645	HUVEC	blood vessel:	n/a	n/a
42	RFX5	chr14:67825904-67827040	HepG2	liver:	n/a	chr14:67826535-67826550
43	POLR2A	chr14:67825792-67827492	HUVEC	blood vessel:	n/a	n/a
44	GABPA	chr14:67825765-67827923	MCF-7	breast:	n/a	chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827042-67827051
45	USF2	chr14:67825801-67827202	Hela-S3	cervix:	n/a	n/a
46	REST	chr14:67825977-67827588	H1-neurons	neurons:	n/a	chr14:67827300-67827309 chr14:67826550-67826563
47	CTBP2	chr14:67826022-67827581	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr14:67825822-67828008	PBDE	blood:	n/a	n/a
49	TAF1	chr14:67825608-67827488	Hela-S3	cervix:	n/a	n/a
50	RFX5	chr14:67825958-67827293	Hela-S3	cervix:	n/a	chr14:67826535-67826550

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67826009-67826059	HCM	heart:	n/a
2	chr14:67826009-67826059	U87	brain:	n/a
3	chr14:67826009-67826059	SKMC	muscle:	n/a
4	chr14:67826009-67826059	PANC-1	pancreas:	n/a
5	chr14:67826009-67826059	SK-N-MC	brain:	n/a
6	chr14:67826009-67826059	ECC-1	luminal epithelium:	n/a
7	chr14:67826009-67826059	NT2-D1	testis:	n/a
8	chr14:67826009-67826059	K562	blood:	n/a
9	chr14:67826009-67826059	RPTEC	kidney:	n/a
10	chr14:67826009-67826059	HCT-116	colon:	n/a
11	chr14:67826009-67826059	AG10803	skin:	n/a
12	chr14:67826009-67826059	Caco-2	colon:	n/a
13	chr14:67826009-67826059	GM12892	blood:	n/a
14	chr14:67826009-67826059	T-47D	breast:	n/a
15	chr14:67826009-67826059	Hela-S3	cervix:	n/a
16	chr14:67826009-67826059	SK-N-SH_RA	brain:	n/a
17	chr14:67826009-67826059	HRCEpiC	kidney:	n/a
18	chr14:67826009-67826059	LNCaP	prostate:	n/a
19	chr14:67826009-67826059	CMK	blood:	n/a
20	chr14:67826009-67826059	NH-A	brain:	n/a
21	chr14:67826009-67826059	NB4	blood:	n/a
22	chr14:67826009-67826059	AG09319	gingival:	n/a
23	chr14:67826009-67826059	HEK293	kidney:	embryo
24	chr14:67826009-67826059	AG04449	skin:	fetal
25	chr14:67826009-67826059	HMEC	breast:	n/a
26	chr14:67826009-67826059	AG09309	skin:	n/a
27	chr14:67826009-67826059	AG04450	lung:	fetal
28	chr14:67826009-67826059	HepG2	liver:	n/a
29	chr14:67826009-67826059	HAEpiC	amniotic membrane:	n/a
30	chr14:67826009-67826059	Jurkat	blood:	n/a
31	chr14:67826009-67826059	HUVEC	blood vessel:	n/a
32	chr14:67826009-67826059	HCF	heart:	n/a
33	chr14:67826009-67826059	SAEC	small airway:	n/a
34	chr14:67826009-67826059	ovcar-3	ovarian:	n/a
35	chr14:67826009-67826059	BE2_C	brain:	n/a
36	chr14:67826009-67826059	GM06990	blood:	n/a
37	chr14:67826009-67826059	AoSMC	blood vessel:	n/a
38	chr14:67826009-67826059	PFSK-1	brain:	n/a
39	chr14:67826009-67826059	HNPCEpiC	eye:	n/a
40	chr14:67826009-67826059	MCF-7	breast:	n/a
41	chr14:67826009-67826059	NHDF-neo	bronchial:	n/a
42	chr14:67826009-67826059	HRPEpiC	eye:	n/a
43	chr14:67826009-67826059	IMR90	lung:	fetal
44	chr14:67826009-67826059	HL-60	blood:	n/a
45	chr14:67826009-67826059	HRE	kidney:	n/a
46	chr14:67826009-67826059	NHBE	bronchial:	n/a
47	chr14:67826009-67826059	HCPEpiC	choroid plexus:	n/a
48	chr14:67826009-67826059	MCF10A-Er-Src	breast:	n/a
49	chr14:67826009-67826059	GM12891	blood:	n/a
50	chr14:67826009-67826059	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67825632..67826631-chr6:13574719..13575473,2	Hela-S3	cervix:
2	chr14:67705865..67709673-chr14:67825015..67827419,4	MCF-7	breast:
3	chr14:67825430..67827590-chr14:67846726..67850726,3	K562	blood:
4	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
5	chr14:67825491..67828010-chr14:67847426..67849597,2	MCF-7	breast:
6	chr14:67826020..67826820-chr9:140484636..140485558,2	Hela-S3	cervix:
7	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:

Variant related genes	Relation type
EIF2S1	TF binding region
EIF2S1	CpG island
ENSG00000100568	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000165724	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10083528	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129218	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135565	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136835	0.84[EUR][1000 genomes]
rs10140203	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141049	0.84[EUR][1000 genomes]
rs10144002	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145458	0.84[EUR][1000 genomes]
rs10148114	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150612	0.84[EUR][1000 genomes]
rs13379087	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379190	0.84[EUR][1000 genomes]
rs13379449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410937	0.84[EUR][1000 genomes]
rs28477898	1.00[ASN][1000 genomes]
rs28503899	0.84[EUR][1000 genomes]
rs35236021	0.84[EUR][1000 genomes]
rs57402080	0.85[EUR][1000 genomes]
rs59231326	0.85[EUR][1000 genomes]
rs6573767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144147	0.84[EUR][1000 genomes]
rs7149826	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154820	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157676	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008820	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012994	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8013980	0.84[EUR][1000 genomes]
rs8014465	0.84[EUR][1000 genomes]
rs8015912	1.00[ASN][1000 genomes]
rs8016480	0.84[EUR][1000 genomes]
rs8020334	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS 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	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	30 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	chr14:67823400-67828400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:67823800-67828400	Active TSS	Right Ventricle	heart
3	chr14:67823800-67828600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:67824000-67827800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:67824000-67828000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:67824200-67829600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:67824200-67829600	Active TSS	K562	blood
8	chr14:67824600-67828000	Active TSS	NHLF	lung
9	chr14:67824600-67828600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:67824800-67828000	Active TSS	HSMM	muscle
11	chr14:67824800-67828200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:67825200-67826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:67825200-67826200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr14:67825200-67826400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:67825200-67826400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:67825200-67828000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:67825200-67828000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:67825200-67828000	Active TSS	A549	lung
19	chr14:67825200-67828000	Active TSS	Hela-S3	cervix
20	chr14:67825200-67828200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:67825200-67828400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:67825200-67828800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr14:67825400-67826200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr14:67825400-67826200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:67825400-67826200	Flanking Active TSS	Liver	Liver
26	chr14:67825400-67826200	Flanking Active TSS	Placenta	Placenta
27	chr14:67825400-67826400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr14:67825400-67827800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:67825400-67827800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:67825400-67827800	Active TSS	Esophagus	oesophagus
31	chr14:67825400-67827800	Active TSS	Left Ventricle	heart
32	chr14:67825400-67827800	Active TSS	Lung	lung
33	chr14:67825400-67828000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:67825400-67828000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:67825400-67828000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:67825400-67828000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:67825400-67828000	Active TSS	HSMMtube	muscle
38	chr14:67825400-67828000	Active TSS	NHDF-Ad	bronchial
39	chr14:67825400-67828200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:67825400-67828200	Active TSS	Ovary	ovary
41	chr14:67825400-67829800	Active TSS	Psoas Muscle	Psoas
42	chr14:67825600-67826200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr14:67825600-67826200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr14:67825600-67826200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:67825600-67826200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr14:67825600-67826200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr14:67825600-67826200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr14:67825600-67826400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr14:67825600-67826400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr14:67825600-67827400	Active TSS	Stomach Smooth Muscle	stomach

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