Variant report

Variant	rs148523058
Chromosome Location	chr14:71374330-71374331
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	POLR2A	chr14:71374126-71374576	U87	brain:	n/a	n/a
2	POLR2A	chr14:71373832-71374691	HepG2	liver:	n/a	n/a
3	YY1	chr14:71373849-71374631	ECC-1	luminal epithelium:	n/a	chr14:71373996-71374010 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71374293-71374301
4	MXI1	chr14:71373921-71375575	HepG2	liver:	n/a	n/a
5	EGR1	chr14:71373717-71375434	HCT-116	colon:	n/a	chr14:71374724-71374737 chr14:71375147-71375156 chr14:71374724-71374737 chr14:71374727-71374737 chr14:71374938-71374952 chr14:71375146-71375156 chr14:71374133-71374143 chr14:71375146-71375159 chr14:71375146-71375159 chr14:71374723-71374738 chr14:71375146-71375159 chr14:71374724-71374737 chr14:71374850-71374863 chr14:71375141-71375163 chr14:71375228-71375238 chr14:71374850-71374860 chr14:71375257-71375279
6	TAF1	chr14:71373858-71374957	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr14:71373866-71375101	Gliobla	brain:	n/a	n/a
8	POLR2A	chr14:71373854-71374504	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:71373938-71374490	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr14:71373769-71374375	A549	lung:	n/a	chr14:71374291-71374303 chr14:71374290-71374299 chr14:71374101-71374111 chr14:71374101-71374113
11	POLR2A	chr14:71373808-71374778	HL-60	blood:	n/a	n/a
12	RCOR1	chr14:71373968-71374444	Hela-S3	cervix:	n/a	n/a
13	YY1	chr14:71373888-71374544	K562	blood:	n/a	chr14:71373996-71374010 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71374293-71374301
14	TAF1	chr14:71373828-71374771	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr14:71373928-71374498	K562	blood:	n/a	n/a
16	ELF1	chr14:71373826-71375664	GM12878	blood:	n/a	chr14:71374791-71374802 chr14:71375217-71375229 chr14:71375150-71375162
17	TBP	chr14:71373868-71374531	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:71373889-71374336	GM19240	blood:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
19	CTCF	chr14:71373630-71374358	MCF-7	breast:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
20	MAX	chr14:71373727-71375644	MCF-7	breast:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
21	MXI1	chr14:71373065-71376033	IMR90	lung:	n/a	n/a
22	EP300	chr14:71373819-71374453	GM12878	blood:	n/a	chr14:71374095-71374111
23	RELA	chr14:71373597-71374991	GM19099	blood:	n/a	chr14:71374884-71374893 chr14:71374884-71374893
24	YY1	chr14:71373831-71375085	SK-N-SH_RA	brain:	n/a	chr14:71373996-71374010 chr14:71374729-71374738 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374849-71374858 chr14:71374815-71374829 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71374293-71374301
25	POLR2A	chr14:71373670-71375721	GM12892	blood:	n/a	n/a
26	ZNF263	chr14:71373684-71377913	HEK293-T-REx	kidney:	n/a	chr14:71376924-71376945
27	ZBTB7A	chr14:71373889-71374340	HepG2	liver:	n/a	chr14:71374135-71374144
28	POLR2A	chr14:71374014-71375356	GM10847	blood:	n/a	n/a
29	PAX5	chr14:71373795-71374786	GM12892	blood:	n/a	n/a
30	BCLAF1	chr14:71373665-71374534	GM12878	blood:	n/a	chr14:71374105-71374114
31	MAX	chr14:71373905-71374372	A549	lung:	n/a	n/a
32	CTCF	chr14:71373678-71374438	GM12878	blood:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
33	TAF1	chr14:71374215-71374500	GM12891	blood:	n/a	n/a
34	MXI1	chr14:71373741-71375614	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:71373855-71375509	GM12878	blood:	n/a	n/a
36	PAX5	chr14:71374290-71374524	GM12878	blood:	n/a	n/a
37	YY1	chr14:71373974-71374518	K562	blood:	n/a	chr14:71373996-71374010 chr14:71374292-71374302 chr14:71374280-71374302 chr14:71374285-71374304 chr14:71373992-71374003 chr14:71374291-71374299 chr14:71374293-71374301
38	UBTF	chr14:71373953-71375390	K562	blood:	n/a	n/a
39	POLR2A	chr14:71373837-71374706	HUVEC	blood vessel:	n/a	n/a
40	TAF1	chr14:71374152-71374630	A549	lung:	n/a	n/a
41	RUNX3	chr14:71373806-71374513	GM12878	blood:	n/a	n/a
42	TBP	chr14:71373957-71374489	GM12878	blood:	n/a	n/a
43	MYC	chr14:71373936-71374917	MCF-7	breast:	n/a	chr14:71374850-71374860 chr14:71374727-71374737
44	POLR2A	chr14:71373925-71374927	MCF-7	breast:	n/a	n/a
45	TAF1	chr14:71374215-71374596	H1-neurons	neurons:	n/a	n/a
46	SMARCB1	chr14:71373831-71375867	Hela-S3	cervix:	n/a	n/a
47	MAX	chr14:71373768-71375739	A549	lung:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
48	POLR2A	chr14:71373870-71374647	ECC-1	luminal epithelium:	n/a	n/a
49	CHD2	chr14:71373862-71375543	Hela-S3	cervix:	n/a	chr14:71374730-71374740 chr14:71375143-71375153 chr14:71375196-71375206 chr14:71374847-71374857
50	POLR2A	chr14:71373923-71374803	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71374299-71374349	GM06990	blood:	n/a
2	chr14:71374302-71374352	HL-60	blood:	n/a
3	chr14:71374299-71374349	H1-hESC	embryonic stem cell:	embryo
4	chr14:71374299-71374349	NHBE	bronchial:	n/a
5	chr14:71374302-71374352	BE2_C	brain:	n/a
6	chr14:71374299-71374349	PANC-1	pancreas:	n/a
7	chr14:71374302-71374352	ProgFib	skin:	n/a
8	chr14:71374302-71374352	PrEC	prostate:	n/a
9	chr14:71374302-71374352	A549	lung:	n/a
10	chr14:71374299-71374349	SK-N-SH_RA	brain:	n/a
11	chr14:71374299-71374349	HNPCEpiC	eye:	n/a
12	chr14:71374299-71374349	HUVEC	blood vessel:	n/a
13	chr14:71374299-71374349	BJ	skin:	n/a
14	chr14:71374302-71374352	HMEC	breast:	n/a
15	chr14:71374302-71374352	Hepatocyte	liver:	n/a
16	chr14:71374302-71374352	NHDF-neo	bronchial:	n/a
17	chr14:71374302-71374352	AG10803	skin:	n/a
18	chr14:71374299-71374349	IMR90	lung:	fetal
19	chr14:71374302-71374352	NHBE	bronchial:	n/a
20	chr14:71374299-71374349	SK-N-SH	brain:	n/a
21	chr14:71374302-71374352	HRPEpiC	eye:	n/a
22	chr14:71374299-71374349	HCT-116	colon:	n/a
23	chr14:71374299-71374349	AG10803	skin:	n/a
24	chr14:71374299-71374349	K562	blood:	n/a
25	chr14:71374302-71374352	Hela-S3	cervix:	n/a
26	chr14:71374299-71374349	Hela-S3	cervix:	n/a
27	chr14:71374302-71374352	SKMC	muscle:	n/a
28	chr14:71374299-71374349	HCF	heart:	n/a
29	chr14:71374299-71374349	AG09309	skin:	n/a
30	chr14:71374302-71374352	ovcar-3	ovarian:	n/a
31	chr14:71374302-71374352	HAEpiC	amniotic membrane:	n/a
32	chr14:71374299-71374349	HRCEpiC	kidney:	n/a
33	chr14:71374302-71374352	U87	brain:	n/a
34	chr14:71374302-71374352	HEK293	kidney:	embryo
35	chr14:71374299-71374349	HEK293	kidney:	embryo
36	chr14:71374299-71374349	U87	brain:	n/a
37	chr14:71374299-71374349	NH-A	brain:	n/a
38	chr14:71374299-71374349	CMK	blood:	n/a
39	chr14:71374299-71374349	HPAEpiC	pulmonary alveolar:	n/a
40	chr14:71374302-71374352	SK-N-MC	brain:	n/a
41	chr14:71374302-71374352	HUVEC	blood vessel:	n/a
42	chr14:71374302-71374352	CMK	blood:	n/a
43	chr14:71374299-71374349	SAEC	small airway:	n/a
44	chr14:71374302-71374352	Caco-2	colon:	n/a
45	chr14:71374302-71374352	Jurkat	blood:	n/a
46	chr14:71374299-71374349	GM12891	blood:	n/a
47	chr14:71374302-71374352	HepG2	liver:	n/a
48	chr14:71374299-71374349	AoSMC	blood vessel:	n/a
49	chr14:71374299-71374349	ovcar-3	ovarian:	n/a
50	chr14:71374299-71374349	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71374157..71374728-chr2:38603975..38604567,2	Hela-S3	cervix:
2	chr14:71373774..71374385-chr17:61045448..61046114,2	Hela-S3	cervix:
3	chr14:71373840..71374362-chr8:136469426..136469930,2	MCF-7	breast:
4	chr14:71373548..71375387-chr14:71412068..71413840,2	MCF-7	breast:

Variant related genes	Relation type
PCNX	TF binding region
PCNX	CpG island
ENSG00000119787	Chromatin interaction
ENSG00000266411	Chromatin interaction
ENSG00000131773	Chromatin interaction
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3323142	chr14:71373224-71375772	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3382652	chr14:71373549-71376347	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr14:71373000-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:71373200-71374400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:71373200-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:71373200-71376200	Active TSS	NHDF-Ad	bronchial
5	chr14:71373200-71376400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:71373400-71374600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:71373400-71374600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:71373400-71374600	Active TSS	Brain Germinal Matrix	brain
9	chr14:71373400-71375400	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:71373400-71375800	Active TSS	Brain Hippocampus Middle	brain
11	chr14:71373400-71375800	Active TSS	Brain Substantia Nigra	brain
12	chr14:71373400-71375800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:71373400-71375800	Active TSS	A549	lung
14	chr14:71373400-71376000	Active TSS	Ovary	ovary
15	chr14:71373400-71376000	Active TSS	Psoas Muscle	Psoas
16	chr14:71373400-71376200	Active TSS	Aorta	Aorta
17	chr14:71373400-71376200	Active TSS	Right Ventricle	heart
18	chr14:71373400-71377000	Active TSS	GM12878-XiMat	blood
19	chr14:71373600-71374600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:71373600-71374600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:71373600-71374800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:71373600-71375400	Active TSS	Brain Angular Gyrus	brain
23	chr14:71373600-71375400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:71373600-71375400	Active TSS	Pancreas	Pancrea
25	chr14:71373600-71375600	Active TSS	Esophagus	oesophagus
26	chr14:71373600-71375800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:71373600-71375800	Active TSS	Colon Smooth Muscle	Colon
28	chr14:71373600-71375800	Active TSS	Fetal Intestine Large	intestine
29	chr14:71373600-71375800	Active TSS	Fetal Stomach	stomach
30	chr14:71373600-71375800	Active TSS	Rectal Smooth Muscle	rectum
31	chr14:71373600-71376000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:71373600-71376000	Active TSS	Fetal Muscle Trunk	muscle
33	chr14:71373600-71376000	Active TSS	Left Ventricle	heart
34	chr14:71373600-71376000	Active TSS	Lung	lung
35	chr14:71373600-71376400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:71373600-71376600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:71373600-71377800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:71373600-71378000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:71373800-71374600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:71373800-71374600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr14:71373800-71375200	Active TSS	Placenta	Placenta
42	chr14:71373800-71375200	Active TSS	K562	blood
43	chr14:71373800-71375400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr14:71373800-71375400	Active TSS	Brain Cingulate Gyrus	brain
45	chr14:71373800-71375400	Active TSS	Duodenum Mucosa	Duodenum
46	chr14:71373800-71375600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:71373800-71375600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr14:71373800-71375600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:71373800-71375600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:71373800-71375600	Active TSS	Liver	Liver

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