Variant report

Variant	rs73253634
Chromosome Location	chr14:36790051-36790052
allele	A/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	MYC	chr14:36789465-36790063	MCF-7	breast:	n/a	chr14:36789847-36789857 chr14:36789583-36789593
2	POLR2A	chr14:36789205-36790173	Hela-S3	cervix:	n/a	n/a
3	MAX	chr14:36789524-36790407	A549	lung:	n/a	chr14:36790240-36790247 chr14:36789847-36789857 chr14:36789583-36789593
4	TAF1	chr14:36789539-36790194	K562	blood:	n/a	n/a
5	HEY1	chr14:36789552-36790194	K562	blood:	n/a	n/a
6	TAF1	chr14:36789231-36790173	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:36789309-36790207	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:36789152-36790453	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr14:36789175-36790389	HepG2	liver:	n/a	n/a
10	CEBPD	chr14:36789365-36790221	HepG2	liver:	n/a	n/a
11	MAX	chr14:36789842-36790143	H1-hESC	embryonic stem cell:	n/a	chr14:36789847-36789857
12	USF2	chr14:36789751-36790435	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr14:36789671-36790054	K562	blood:	n/a	n/a
14	CHD2	chr14:36789540-36790100	K562	blood:	n/a	n/a
15	STAT1	chr14:36789561-36790148	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:36789263-36790215	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:36789455-36790200	HepG2	liver:	n/a	n/a
18	YY1	chr14:36789411-36790242	NT2-D1	testis:	n/a	chr14:36789846-36789855 chr14:36789582-36789596 chr14:36790179-36790189
19	POLR2A	chr14:36789267-36790258	GM12878	blood:	n/a	n/a
20	SP1	chr14:36789696-36790224	H1-hESC	embryonic stem cell:	n/a	chr14:36789845-36789859 chr14:36789845-36789854 chr14:36789922-36789933 chr14:36789922-36789934 chr14:36789844-36789856 chr14:36789846-36789855 chr14:36789844-36789856 chr14:36789845-36789854 chr14:36789845-36789855 chr14:36789845-36789855
21	TEAD4	chr14:36789796-36790298	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:36789581-36790210	K562	blood:	n/a	n/a
23	CREB1	chr14:36789091-36790384	HepG2	liver:	n/a	n/a
24	MAFF	chr14:36789946-36790120	K562	blood:	n/a	n/a
25	POLR2A	chr14:36789636-36790197	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr14:36789597-36790178	GM12891	blood:	n/a	n/a
27	MAFK	chr14:36789150-36790323	Hela-S3	cervix:	n/a	n/a
28	MTA3	chr14:36789623-36790232	GM12878	blood:	n/a	n/a
29	CREB1	chr14:36789560-36790213	H1-hESC	embryonic stem cell:	n/a	n/a
30	SP2	chr14:36789858-36790065	K562	blood:	n/a	chr14:36789922-36789937
31	POLR2A	chr14:36789662-36790106	A549	lung:	n/a	n/a
32	YY1	chr14:36790023-36790352	GM12891	blood:	n/a	chr14:36790179-36790189
33	CTCF	chr14:36789934-36790267	K562	blood:	n/a	n/a
34	POLR2A	chr14:36789446-36790252	A549	lung:	n/a	n/a
35	RFX5	chr14:36789533-36790282	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr14:36789686-36790191	IMR90	lung:	n/a	n/a
37	YY1	chr14:36789360-36790336	GM12878	blood:	n/a	chr14:36789846-36789855 chr14:36789582-36789596 chr14:36790179-36790189
38	MYBL2	chr14:36789103-36790368	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr14:36789705-36790205	A549	lung:	n/a	n/a
40	POLR2A	chr14:36789527-36790268	ECC-1	luminal epithelium:	n/a	n/a
41	CREB1	chr14:36789329-36790197	K562	blood:	n/a	n/a
42	MAFK	chr14:36789255-36790259	HepG2	liver:	n/a	n/a
43	YY1	chr14:36789959-36790331	GM12892	blood:	n/a	chr14:36790179-36790189
44	YY1	chr14:36789323-36790359	GM12878	blood:	n/a	chr14:36789846-36789855 chr14:36789582-36789596 chr14:36790179-36790189
45	JUND	chr14:36789677-36790215	HepG2	liver:	n/a	n/a
46	MYBL2	chr14:36788451-36790340	HepG2	liver:	n/a	chr14:36788635-36788645 chr14:36788637-36788651
47	SP2	chr14:36789735-36790065	K562	blood:	n/a	chr14:36789922-36789937
48	TBP	chr14:36789605-36790144	GM12878	blood:	n/a	n/a
49	RCOR1	chr14:36789574-36790219	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr14:36788999-36790202	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
2	chr14:36783190..36784933-chr14:36788355..36791806,3	MCF-7	breast:
3	chr14:36538483..36541249-chr14:36788541..36791272,2	MCF-7	breast:

Variant related genes	Relation type
MBIP	TF binding region
ENSG00000151332	Chromatin interaction
ENSG00000257585	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11845435	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11848982	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11850190	0.80[AMR][1000 genomes]
rs11850315	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17104335	0.91[AMR][1000 genomes]
rs17104348	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17104349	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17104401	0.80[AMR][1000 genomes]
rs35977589	0.80[AFR][1000 genomes]
rs41479848	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59719230	0.91[AMR][1000 genomes]
rs73253625	0.82[AFR][1000 genomes]
rs73253635	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73253636	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9944138	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
12	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv518747	chr14:36787226-36809926	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36786600-36790200	Active TSS	GM12878-XiMat	blood
2	chr14:36786600-36790400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:36787000-36790200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:36787200-36790400	Active TSS	HMEC	breast
5	chr14:36787400-36790600	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:36787800-36790400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:36787800-36790400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr14:36787800-36790400	Active TSS	Fetal Lung	lung
9	chr14:36787800-36790600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:36787800-36790600	Active TSS	K562	blood
11	chr14:36788000-36790400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:36788000-36790400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:36788000-36790400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:36788000-36790400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:36788000-36790400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:36788000-36790400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:36788000-36790400	Active TSS	Right Atrium	heart
18	chr14:36788000-36790400	Active TSS	Stomach Smooth Muscle	stomach
19	chr14:36788200-36790200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:36788200-36790200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:36788200-36790400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:36788200-36790400	Active TSS	NHDF-Ad	bronchial
23	chr14:36788200-36790400	Active TSS	NHLF	lung
24	chr14:36788200-36790600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:36788400-36790200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:36788400-36790200	Active TSS	NH-A	brain
27	chr14:36788400-36790400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:36788400-36790400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:36788400-36790400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:36788400-36790400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:36788400-36790400	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr14:36788400-36790400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:36788400-36790400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:36788400-36790400	Active TSS	Brain Anterior Caudate	brain
35	chr14:36788400-36790400	Active TSS	Brain Cingulate Gyrus	brain
36	chr14:36788400-36790400	Active TSS	Brain Hippocampus Middle	brain
37	chr14:36788400-36790400	Active TSS	Fetal Brain Female	brain
38	chr14:36788400-36790400	Active TSS	Fetal Kidney	kidney
39	chr14:36788400-36790400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:36788400-36790400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr14:36788400-36790400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr14:36788400-36790400	Active TSS	HSMM	muscle
43	chr14:36788400-36790400	Active TSS	NHEK	skin
44	chr14:36788400-36790600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr14:36788400-36790600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:36788400-36790800	Active TSS	A549	lung
47	chr14:36788600-36790200	Active TSS	Aorta	Aorta
48	chr14:36788600-36790200	Active TSS	Rectal Smooth Muscle	rectum
49	chr14:36788600-36790400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr14:36788600-36790400	Active TSS	H9 Cell Line	embryonic stem cell

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