Variant report

Variant	rs371011049
Chromosome Location	chr14:71373963-71373964
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	chr14:71373832-71374691	HepG2	liver:	n/a	n/a
2	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
3	MXI1	chr14:71373921-71375575	HepG2	liver:	n/a	n/a
4	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
5	GTF2F1	chr14:71373880-71374080	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr14:71373917-71374170	K562	blood:	n/a	chr14:71374133-71374143
7	CTCF	chr14:71373900-71374050	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr14:71373940-71374090	GM12868	blood:	n/a	n/a
9	CTCF	chr14:71373880-71374030	HRE	kidney:	n/a	n/a
10	TAF1	chr14:71373858-71374957	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr14:71373866-71375101	Gliobla	brain:	n/a	n/a
12	POLR2A	chr14:71373854-71374504	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr14:71373859-71374308	SK-N-SH_RA	brain:	n/a	chr14:71374291-71374303 chr14:71374290-71374299 chr14:71374101-71374111 chr14:71374101-71374113
14	POLR2A	chr14:71373938-71374490	HUVEC	blood vessel:	n/a	n/a
15	RAD21	chr14:71373769-71374375	A549	lung:	n/a	chr14:71374291-71374303 chr14:71374290-71374299 chr14:71374101-71374111 chr14:71374101-71374113
16	CTCF	chr14:71373960-71374110	HCM	heart:	n/a	chr14:71374100-71374110
17	CTCF	chr14:71373829-71374313	HepG2	liver:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
18	POLR2A	chr14:71373808-71374778	HL-60	blood:	n/a	n/a
19	CTCF	chr14:71373940-71374090	GM12865	blood:	n/a	n/a
20	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
21	TAF1	chr14:71373828-71374771	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:71373880-71374030	HL-60	blood:	n/a	n/a
23	CEBPB	chr14:71373557-71374209	MCF-7	breast:	n/a	chr14:71373719-71373732
24	RCOR1	chr14:71373928-71374498	K562	blood:	n/a	n/a
25	ELF1	chr14:71373826-71375664	GM12878	blood:	n/a	chr14:71374791-71374802 chr14:71375217-71375229 chr14:71375150-71375162
26	GABPA	chr14:71373882-71374207	H1-hESC	embryonic stem cell:	n/a	chr14:71374136-71374145
27	TBP	chr14:71373868-71374531	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:71373931-71374263	LNCaP	prostate:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
29	CHD2	chr14:71373901-71374207	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:71373889-71374336	GM19240	blood:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
31	NANOG	chr14:71373897-71374192	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr14:71373630-71374358	MCF-7	breast:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
33	MAX	chr14:71373727-71375644	MCF-7	breast:	n/a	chr14:71375428-71375438 chr14:71374850-71374860 chr14:71375191-71375201 chr14:71375384-71375393 chr14:71374727-71374737
34	MXI1	chr14:71373065-71376033	IMR90	lung:	n/a	n/a
35	CTCF	chr14:71373902-71374287	Fibrobl	skin:	n/a	chr14:71374100-71374110 chr14:71374130-71374143
36	POLR2A	chr14:71373656-71373980	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr14:71373803-71374164	PANC-1	pancreas:	n/a	n/a
38	EP300	chr14:71373819-71374453	GM12878	blood:	n/a	chr14:71374095-71374111
39	FOXM1	chr14:71373597-71374219	GM12878	blood:	n/a	n/a
40	CTCF	chr14:71373940-71374090	GM12872	blood:	n/a	n/a
41	FOXA1	chr14:71373895-71374159	T-47D	breast:	n/a	n/a
42	RELA	chr14:71373597-71374991	GM19099	blood:	n/a	chr14:71374884-71374893 chr14:71374884-71374893
43	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
44	POLR2A	chr14:71373670-71375721	GM12892	blood:	n/a	n/a
45	ZKSCAN1	chr14:71373936-71374220	Hela-S3	cervix:	n/a	n/a
46	ZNF263	chr14:71373684-71377913	HEK293-T-REx	kidney:	n/a	chr14:71376924-71376945
47	ZBTB7A	chr14:71373889-71374340	HepG2	liver:	n/a	chr14:71374135-71374144
48	EP300	chr14:71373663-71374303	HepG2	liver:	n/a	chr14:71374095-71374111
49	PAX5	chr14:71373795-71374786	GM12892	blood:	n/a	n/a
50	BCLAF1	chr14:71373665-71374534	GM12878	blood:	n/a	chr14:71374105-71374114

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

Variant related genes	Relation type
PCNX	TF binding region
ENSG00000131773	Chromatin interaction
ENSG00000100731	Chromatin interaction
ENSG00000266411	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	chr14:71371200-71374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:71372800-71374000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr14:71373000-71374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:71373000-71374000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:71373000-71374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:71373000-71374000	Enhancers	Stomach Mucosa	stomach
7	chr14:71373000-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:71373200-71374000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:71373200-71374000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr14:71373200-71374000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr14:71373200-71374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:71373200-71374200	Active TSS	Right Atrium	heart
13	chr14:71373200-71374400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:71373200-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:71373200-71376200	Active TSS	NHDF-Ad	bronchial
16	chr14:71373200-71376400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:71373400-71374000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr14:71373400-71374000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr14:71373400-71374000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr14:71373400-71374000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:71373400-71374000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:71373400-71374000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:71373400-71374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:71373400-71374000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:71373400-71374000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:71373400-71374000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr14:71373400-71374000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr14:71373400-71374000	Flanking Active TSS	Dnd41	blood
29	chr14:71373400-71374000	Flanking Active TSS	Hela-S3	cervix
30	chr14:71373400-71374000	Flanking Active TSS	HMEC	breast
31	chr14:71373400-71374000	Flanking Active TSS	HUVEC	blood vessel
32	chr14:71373400-71374000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr14:71373400-71374000	Flanking Active TSS	NH-A	brain
34	chr14:71373400-71374000	Flanking Active TSS	NHEK	skin
35	chr14:71373400-71374600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:71373400-71374600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:71373400-71374600	Active TSS	Brain Germinal Matrix	brain
38	chr14:71373400-71375400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:71373400-71375800	Active TSS	Brain Hippocampus Middle	brain
40	chr14:71373400-71375800	Active TSS	Brain Substantia Nigra	brain
41	chr14:71373400-71375800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:71373400-71375800	Active TSS	A549	lung
43	chr14:71373400-71376000	Active TSS	Ovary	ovary
44	chr14:71373400-71376000	Active TSS	Psoas Muscle	Psoas
45	chr14:71373400-71376200	Active TSS	Aorta	Aorta
46	chr14:71373400-71376200	Active TSS	Right Ventricle	heart
47	chr14:71373400-71377000	Active TSS	GM12878-XiMat	blood
48	chr14:71373600-71374000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:71373600-71374000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:71373600-71374000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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