Variant report

Variant	rs72675010
Chromosome Location	chr14:21686289-21686290
allele	G/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	chr14:21686280-21686430	MCF-7	breast:	n/a	n/a
2	GATA3	chr14:21686070-21686770	A549	lung:	n/a	n/a
3	CEBPB	chr14:21686243-21686651	Hela-S3	cervix:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
4	CEBPB	chr14:21686264-21686529	A549	lung:	n/a	chr14:21686494-21686506
5	STAT3	chr14:21686269-21686525	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:21685912-21687261	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr14:21681110-21686824	K562	blood:	n/a	n/a
8	CTCF	chr14:21686260-21686410	GM12871	blood:	n/a	n/a
9	FOSL2	chr14:21686213-21686668	A549	lung:	n/a	n/a
10	EP300	chr14:21686218-21686691	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr14:21686267-21686562	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:21686076-21686744	Hela-S3	cervix:	n/a	n/a
13	NFATC1	chr14:21685841-21686346	GM12878	blood:	n/a	n/a
14	CEBPB	chr14:21686274-21686500	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:21686243-21686462	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOSL2	chr14:21686128-21686662	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr14:21686231-21686580	HepG2	liver:	n/a	n/a
18	JUND	chr14:21686284-21686537	HepG2	liver:	n/a	chr14:21686436-21686447
19	FOS	chr14:21686256-21686620	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr14:21686257-21686628	Hela-S3	cervix:	n/a	chr14:21686436-21686447
21	FOS	chr14:21686252-21686936	MCF10A-Er-Src	breast:	n/a	chr14:21686874-21686882
22	GATA3	chr14:21686254-21686621	T-47D	breast:	n/a	n/a
23	FOS	chr14:21686233-21686596	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr14:21686265-21686584	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:21685975-21686749	Hela-S3	cervix:	n/a	n/a
26	FOS	chr14:21686232-21686628	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:21686237-21686481	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:21681562-21688502	HepG2	liver:	n/a	n/a
29	PBX3	chr14:21686134-21686717	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr14:21686088-21686905	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:21686264-21686463	HepG2	liver:	n/a	n/a
32	FOSL2	chr14:21686186-21686668	MCF-7	breast:	n/a	n/a
33	JUND	chr14:21686140-21686747	SK-N-SH	brain:	n/a	chr14:21686436-21686447
34	CEBPB	chr14:21686197-21686719	MCF-7	breast:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
35	POLR2A	chr14:21686162-21686429	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:21686223-21686526	HepG2	liver:	n/a	n/a
37	CEBPB	chr14:21686238-21687069	IMR90	lung:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
38	JUND	chr14:21686186-21686786	SK-N-SH	brain:	n/a	chr14:21686436-21686447
39	USF2	chr14:21686263-21686469	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr14:21686193-21686942	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr14:21686104-21686891	MCF-7	breast:	n/a	n/a
42	TEAD4	chr14:21686151-21686844	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr14:21686068-21686480	K562	blood:	n/a	n/a
44	GATA2	chr14:21686254-21686830	HUVEC	blood vessel:	n/a	n/a
45	TCF12	chr14:21686137-21686876	SK-N-SH	brain:	n/a	n/a
46	HEY1	chr14:21686110-21686644	HepG2	liver:	n/a	n/a
47	JUND	chr14:21686166-21686839	SK-N-SH	brain:	n/a	chr14:21686436-21686447
48	TCF12	chr14:21686085-21686722	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr14:21686218-21686671	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr14:21686236-21686468	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21683942..21686435-chr14:21849185..21850784,2	MCF-7	breast:
2	chr14:21682920..21686919-chr14:21693629..21695651,3	MCF-7	breast:
3	chr14:21684971..21687405-chr14:21736664..21738674,3	MCF-7	breast:
4	chr14:21679501..21682581-chr14:21683492..21686432,4	K562	blood:
5	chr14:21680490..21682250-chr14:21684658..21687310,2	MCF-7	breast:
6	chr14:21682890..21684914-chr14:21686115..21687924,2	K562	blood:
7	chr14:21682936..21686679-chr14:21688141..21690652,4	K562	blood:

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10658793	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11156891	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185018	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12589290	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3790069	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675020	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678657	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8008748	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009479	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8012227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats 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
16	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv541981	chr14:21676221-21727801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
21	nsv974314	chr14:21679868-21701353	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	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	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
3	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:21671600-21688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:21672200-21696600	Strong transcription	Primary B cells from cord blood	blood
7	chr14:21672400-21696000	Strong transcription	Adipose Nuclei	Adipose
8	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:21672800-21699400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr14:21672800-21699400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:21673000-21687600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:21673000-21702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:21673000-21702800	Strong transcription	Fetal Intestine Large	intestine
17	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr14:21674000-21696200	Weak transcription	Fetal Brain Male	brain
20	chr14:21674200-21695400	Strong transcription	Fetal Kidney	kidney
21	chr14:21674200-21698600	Strong transcription	Dnd41	blood
22	chr14:21674600-21687600	Strong transcription	Hela-S3	cervix
23	chr14:21674600-21698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:21676400-21687400	Weak transcription	Fetal Heart	heart
25	chr14:21677000-21700400	Strong transcription	Liver	Liver
26	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:21678400-21688000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:21680800-21688000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:21680800-21688200	Weak transcription	Stomach Mucosa	stomach
30	chr14:21680800-21691200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:21681000-21714000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr14:21681200-21686600	Weak transcription	Aorta	Aorta
33	chr14:21681200-21687400	Weak transcription	Brain Substantia Nigra	brain
34	chr14:21681200-21688000	Weak transcription	Ovary	ovary
35	chr14:21681200-21689200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:21681200-21690800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:21681200-21697000	Weak transcription	Right Ventricle	heart
38	chr14:21681400-21686600	Weak transcription	Gastric	stomach
39	chr14:21681400-21687400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:21681400-21687800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:21681400-21689000	Weak transcription	Spleen	Spleen
42	chr14:21681400-21689200	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:21681400-21691200	Weak transcription	Brain Angular Gyrus	brain
44	chr14:21681400-21691200	Weak transcription	Esophagus	oesophagus
45	chr14:21681600-21687400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:21681600-21698000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:21681800-21686600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:21682200-21687400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:21682200-21693800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:21682400-21686600	Genic enhancers	Primary T cells from cord blood	blood

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