Variant report

Variant	rs146354943
Chromosome Location	chr14:31889200-31889201
allele	C/G
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	TCF7L2	chr14:31888807-31890235	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:31889170-31890316	GM12892	blood:	n/a	n/a
3	E2F6	chr14:31889155-31889347	K562	blood:	n/a	n/a
4	HDAC2	chr14:31888846-31890344	HepG2	liver:	n/a	chr14:31889103-31889112
5	RCOR1	chr14:31889104-31890333	HepG2	liver:	n/a	n/a
6	TCF7L2	chr14:31889177-31890059	HCT-116	colon:	n/a	n/a
7	POLR2A	chr14:31889176-31890375	GM18505	blood:	n/a	n/a
8	POLR2A	chr14:31889061-31890271	K562	blood:	n/a	n/a
9	FOSL2	chr14:31888956-31890290	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:31889084-31890370	MCF10A-Er-Src	breast:	n/a	n/a
11	ZBTB7A	chr14:31889131-31889816	K562	blood:	n/a	chr14:31889539-31889550
12	ZNF143	chr14:31888734-31890363	Hela-S3	cervix:	n/a	chr14:31889870-31889880 chr14:31889763-31889773
13	MAX	chr14:31889067-31890198	MCF-7	breast:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
14	CHD2	chr14:31889120-31890331	GM12878	blood:	n/a	chr14:31889629-31889639
15	RAD21	chr14:31888987-31890284	HepG2	liver:	n/a	chr14:31889324-31889338
16	CTCF	chr14:31889100-31889250	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr14:31889121-31890259	GM18951	blood:	n/a	n/a
18	POLR2A	chr14:31889164-31890327	GM15510	blood:	n/a	n/a
19	ELF1	chr14:31889068-31890161	GM12878	blood:	n/a	chr14:31889763-31889772 chr14:31889766-31889775
20	CCNT2	chr14:31889034-31890093	K562	blood:	n/a	n/a
21	POLR2A	chr14:31889084-31890236	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:31888998-31890143	HUVEC	blood vessel:	n/a	n/a
23	ZBTB7A	chr14:31889192-31889997	ECC-1	luminal epithelium:	n/a	chr14:31889539-31889550
24	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
25	ETS1	chr14:31889093-31889400	K562	blood:	n/a	n/a
26	EP300	chr14:31889181-31890375	HepG2	liver:	n/a	chr14:31889325-31889341 chr14:31889765-31889774 chr14:31889253-31889269 chr14:31889763-31889772 chr14:31889870-31889886 chr14:31889254-31889270 chr14:31889871-31889887
27	POLR2A	chr14:31888991-31890339	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:31889010-31889239	K562	blood:	n/a	n/a
29	POLR2A	chr14:31888988-31890246	HUVEC	blood vessel:	n/a	n/a
30	RAD21	chr14:31888926-31889428	Hela-S3	cervix:	n/a	chr14:31889324-31889338
31	YY1	chr14:31889056-31889272	K562	blood:	n/a	n/a
32	POLR2A	chr14:31888876-31890329	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr14:31888926-31890479	GM12878	blood:	n/a	n/a
34	ZEB1	chr14:31889038-31889990	GM12878	blood:	n/a	n/a
35	E2F1	chr14:31889103-31890087	Hela-S3	cervix:	n/a	chr14:31889764-31889774
36	SMC3	chr14:31889050-31890356	HepG2	liver:	n/a	chr14:31889213-31889223
37	MYC	chr14:31889200-31889397	HepG2	liver:	n/a	n/a
38	TCF12	chr14:31889094-31890278	A549	lung:	n/a	chr14:31889901-31889908 chr14:31889899-31889906
39	TCF12	chr14:31888984-31890303	ECC-1	luminal epithelium:	n/a	chr14:31889901-31889908 chr14:31889899-31889906
40	MAX	chr14:31889005-31890167	ECC-1	luminal epithelium:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
41	RAD21	chr14:31889000-31889252	SK-N-SH_RA	brain:	n/a	n/a
42	HEY1	chr14:31888878-31890863	HepG2	liver:	n/a	chr14:31889322-31889337 chr14:31889202-31889217 chr14:31889200-31889215
43	YY1	chr14:31889031-31890251	HepG2	liver:	n/a	chr14:31889893-31889907 chr14:31889766-31889775 chr14:31889766-31889780
44	FOXA1	chr14:31889192-31889500	T-47D	breast:	n/a	n/a
45	MAFK	chr14:31888997-31890544	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
47	MAZ	chr14:31889004-31890232	Hela-S3	cervix:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
48	JUND	chr14:31888951-31890283	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:31888918-31890389	Hela-S3	cervix:	n/a	n/a
50	GATA3	chr14:31889090-31890260	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31889169-31889219	K562	blood:	n/a
2	chr14:31889169-31889219	BJ	skin:	n/a
3	chr14:31889169-31889219	SK-N-SH	brain:	n/a
4	chr14:31889169-31889219	ProgFib	skin:	n/a
5	chr14:31889169-31889219	SK-N-MC	brain:	n/a
6	chr14:31889169-31889219	ECC-1	luminal epithelium:	n/a
7	chr14:31889169-31889219	NH-A	brain:	n/a
8	chr14:31889169-31889219	HCT-116	colon:	n/a
9	chr14:31889169-31889219	LNCaP	prostate:	n/a
10	chr14:31889169-31889219	HCM	heart:	n/a
11	chr14:31889169-31889219	NHBE	bronchial:	n/a
12	chr14:31889169-31889219	AG09319	gingival:	n/a
13	chr14:31889169-31889219	GM12891	blood:	n/a
14	chr14:31889169-31889219	AoSMC	blood vessel:	n/a
15	chr14:31889169-31889219	HRCEpiC	kidney:	n/a
16	chr14:31889169-31889219	HCPEpiC	choroid plexus:	n/a
17	chr14:31889169-31889219	PrEC	prostate:	n/a
18	chr14:31889169-31889219	HIPEpiC	eye:	n/a
19	chr14:31889169-31889219	HEK293	kidney:	embryo
20	chr14:31889169-31889219	SKMC	muscle:	n/a
21	chr14:31889169-31889219	Jurkat	blood:	n/a
22	chr14:31889169-31889219	BE2_C	brain:	n/a
23	chr14:31889169-31889219	SAEC	small airway:	n/a
24	chr14:31889169-31889219	H1-hESC	embryonic stem cell:	embryo
25	chr14:31889169-31889219	HL-60	blood:	n/a
26	chr14:31889169-31889219	GM19239	blood:	n/a
27	chr14:31889169-31889219	AG04449	skin:	fetal
28	chr14:31889169-31889219	HRPEpiC	eye:	n/a
29	chr14:31889169-31889219	MCF10A-Er-Src	breast:	n/a
30	chr14:31889169-31889219	SK-N-SH_RA	brain:	n/a
31	chr14:31889169-31889219	GM12878	blood:	n/a
32	chr14:31889169-31889219	HepG2	liver:	n/a
33	chr14:31889169-31889219	MCF-7	breast:	n/a
34	chr14:31889169-31889219	NT2-D1	testis:	n/a
35	chr14:31889169-31889219	T-47D	breast:	n/a
36	chr14:31889169-31889219	GM12892	blood:	n/a
37	chr14:31889169-31889219	CMK	blood:	n/a
38	chr14:31889169-31889219	A549	lung:	n/a
39	chr14:31889169-31889219	AG10803	skin:	n/a
40	chr14:31889169-31889219	ovcar-3	ovarian:	n/a
41	chr14:31889169-31889219	NB4	blood:	n/a
42	chr14:31889169-31889219	PFSK-1	brain:	n/a
43	chr14:31889169-31889219	HUVEC	blood vessel:	n/a
44	chr14:31889169-31889219	NHDF-neo	bronchial:	n/a
45	chr14:31889169-31889219	IMR90	lung:	fetal
46	chr14:31889169-31889219	Hepatocyte	liver:	n/a
47	chr14:31889169-31889219	GM06990	blood:	n/a
48	chr14:31889169-31889219	U87	brain:	n/a
49	chr14:31889169-31889219	Hela-S3	cervix:	n/a
50	chr14:31889169-31889219	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
3	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
4	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
5	chr14:31888742..31889382-chr3:41241031..41241649,2	Hela-S3	cervix:
6	chr14:31854067..31858154-chr14:31887468..31890013,3	MCF-7	breast:
7	chr14:31888596..31889246-chr8:110346351..110347121,2	Hela-S3	cervix:
8	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:
9	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:

Variant related genes	Relation type
ENSG00000250365	TF binding region
ENSG00000250365	CpG island
ENSG00000168036	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000092108	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers 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

No data

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31887200-31890000	Active TSS	Hela-S3	cervix
2	chr14:31887400-31890000	Active TSS	NHLF	lung
3	chr14:31887600-31890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:31887800-31889200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:31887800-31890000	Active TSS	A549	lung
6	chr14:31887800-31890200	Active TSS	Right Atrium	heart
7	chr14:31888000-31890000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:31888000-31890000	Active TSS	NHDF-Ad	bronchial
9	chr14:31888200-31889200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:31888200-31889200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:31888200-31889200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:31888200-31889600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:31888200-31890000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:31888200-31890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:31888200-31890000	Active TSS	Fetal Lung	lung
16	chr14:31888200-31890000	Active TSS	HMEC	breast
17	chr14:31888200-31890200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:31888200-31890200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:31888200-31890200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:31888200-31890200	Active TSS	HSMMtube	muscle
21	chr14:31888200-31890400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:31888200-31890400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:31888200-31890400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:31888200-31890400	Active TSS	Colonic Mucosa	Colon
25	chr14:31888200-31890400	Active TSS	Fetal Stomach	stomach
26	chr14:31888200-31890400	Active TSS	Stomach Smooth Muscle	stomach
27	chr14:31888200-31890400	Active TSS	K562	blood
28	chr14:31888200-31890600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:31888400-31889200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr14:31888400-31890000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:31888400-31890000	Active TSS	Fetal Intestine Small	intestine
32	chr14:31888400-31890000	Active TSS	HSMM	muscle
33	chr14:31888400-31890200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr14:31888400-31890200	Active TSS	Right Ventricle	heart
35	chr14:31888400-31890400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:31888400-31890400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:31888400-31890400	Active TSS	Fetal Intestine Large	intestine
38	chr14:31888400-31890400	Active TSS	Fetal Muscle Leg	muscle
39	chr14:31888400-31890400	Active TSS	Placenta	Placenta
40	chr14:31888400-31890400	Active TSS	Psoas Muscle	Psoas
41	chr14:31888400-31890400	Active TSS	NH-A	brain
42	chr14:31888400-31890400	Active TSS	Osteobl	bone
43	chr14:31888600-31889200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:31888600-31889200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr14:31888600-31889600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr14:31888600-31890000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:31888600-31890000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:31888600-31890000	Active TSS	Duodenum Mucosa	Duodenum
49	chr14:31888600-31890000	Active TSS	Stomach Mucosa	stomach
50	chr14:31888600-31890000	Active TSS	GM12878-XiMat	blood

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