Variant report

Variant	rs8016287
Chromosome Location	chr14:21738055-21738056
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	chr14:21736969-21738235	HCT-116	colon:	n/a	n/a
2	MBD4	chr14:21736436-21738477	HepG2	liver:	n/a	n/a
3	MAFK	chr14:21737454-21738229	HepG2	liver:	n/a	n/a
4	TEAD4	chr14:21736198-21738533	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:21737916-21738332	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMC3	chr14:21737406-21738286	HepG2	liver:	n/a	n/a
7	CREB1	chr14:21736959-21738568	HepG2	liver:	n/a	n/a
8	PBX3	chr14:21737453-21738065	GM12878	blood:	n/a	chr14:21737913-21737933 chr14:21737824-21737833
9	CEBPB	chr14:21737580-21738284	A549	lung:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
10	MYC	chr14:21736535-21738520	NB4	blood:	n/a	chr14:21736997-21737006
11	MYBL2	chr14:21735757-21738673	HepG2	liver:	n/a	chr14:21737687-21737701
12	ZNF143	chr14:21737411-21738284	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP2	chr14:21737356-21738189	H1-hESC	embryonic stem cell:	n/a	chr14:21737647-21737657 chr14:21737683-21737706 chr14:21737911-21737934 chr14:21737786-21737809
14	EGR1	chr14:21737846-21738102	GM12878	blood:	n/a	chr14:21737992-21738002 chr14:21737989-21738002 chr14:21737988-21738003 chr14:21737989-21738002 chr14:21737989-21738002 chr14:21737985-21738007 chr14:21737992-21738001 chr14:21737989-21738003 chr14:21737991-21738001 chr14:21737989-21738002
15	E2F4	chr14:21737451-21738334	MCF10A-Er-Src	breast:	n/a	chr14:21738069-21738086 chr14:21737994-21738006 chr14:21737994-21738003 chr14:21738076-21738083 chr14:21738076-21738083 chr14:21738226-21738235 chr14:21738076-21738083 chr14:21738069-21738086 chr14:21737911-21737920
16	BRCA1	chr14:21737406-21738551	Hela-S3	cervix:	n/a	n/a
17	GTF2F1	chr14:21737263-21738311	K562	blood:	n/a	n/a
18	CEBPD	chr14:21737383-21738225	HepG2	liver:	n/a	chr14:21738092-21738103
19	TBL1XR1	chr14:21736493-21738461	GM12878	blood:	n/a	n/a
20	RCOR1	chr14:21737792-21738247	K562	blood:	n/a	n/a
21	POLR2A	chr14:21737147-21738110	Gliobla	brain:	n/a	n/a
22	HEY1	chr14:21737912-21738258	K562	blood:	n/a	chr14:21737987-21738002
23	POLR2A	chr14:21736905-21738441	K562	blood:	n/a	n/a
24	FOXM1	chr14:21737322-21738239	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr14:21736781-21738457	ECC-1	luminal epithelium:	n/a	chr14:21736997-21737006
26	POLR2A	chr14:21736987-21738332	K562	blood:	n/a	n/a
27	MXI1	chr14:21736372-21738472	Hela-S3	cervix:	n/a	n/a
28	SP4	chr14:21737444-21738280	H1-hESC	embryonic stem cell:	n/a	chr14:21738010-21738026
29	MYC	chr14:21737450-21738474	MCF10A-Er-Src	breast:	n/a	n/a
30	REST	chr14:21736773-21738074	H1-neurons	neurons:	n/a	n/a
31	GTF2B	chr14:21738016-21738216	K562	blood:	n/a	n/a
32	POLR2A	chr14:21736942-21738549	HepG2	liver:	n/a	n/a
33	TCF12	chr14:21737355-21738231	ECC-1	luminal epithelium:	n/a	n/a
34	HEY1	chr14:21737956-21738286	K562	blood:	n/a	chr14:21737987-21738002
35	CEBPZ	chr14:21737440-21738298	HepG2	liver:	n/a	chr14:21738092-21738103
36	SMC3	chr14:21737534-21738250	Hela-S3	cervix:	n/a	n/a
37	CHD1	chr14:21734912-21738567	IMR90	lung:	n/a	n/a
38	MAZ	chr14:21737372-21738459	GM12878	blood:	n/a	n/a
39	CREB1	chr14:21737513-21738148	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr14:21737546-21738161	IMR90	lung:	n/a	n/a
41	CREB1	chr14:21737498-21738196	K562	blood:	n/a	n/a
42	CREB1	chr14:21737449-21738229	ECC-1	luminal epithelium:	n/a	n/a
43	IRF1	chr14:21737457-21738230	K562	blood:	n/a	chr14:21737620-21737634 chr14:21737825-21737834 chr14:21737649-21737658 chr14:21737993-21738007
44	MAX	chr14:21736953-21738512	GM12878	blood:	n/a	chr14:21736997-21737006
45	NFIC	chr14:21736240-21738284	HepG2	liver:	n/a	n/a
46	ZNF384	chr14:21737525-21738672	GM12878	blood:	n/a	n/a
47	MYC	chr14:21736316-21738428	K562	blood:	n/a	chr14:21736997-21737006
48	MAX	chr14:21737537-21738434	A549	lung:	n/a	n/a
49	NFIC	chr14:21736883-21738474	HepG2	liver:	n/a	n/a
50	GABPA	chr14:21737660-21738114	H1-hESC	embryonic stem cell:	n/a	chr14:21737994-21738003

No.	Distal block	Cell Line	Cell type
1	chr14:21731892..21738562-chr14:21850801..21854193,10	MCF-7	breast:
2	chr14:21736434..21738367-chr14:21826392..21828107,2	MCF-7	breast:
3	chr14:21736080..21739636-chr14:21765775..21769584,7	MCF-7	breast:
4	chr14:21737810..21738535-chr17:41444968..41445541,2	Hela-S3	cervix:
5	chr1:205718690..205719263-chr14:21737810..21738344,2	Hela-S3	cervix:
6	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
7	chr14:21698033..21699942-chr14:21736432..21738329,2	MCF-7	breast:
8	chr14:21736489..21738626-chr14:21851688..21853909,3	K562	blood:
9	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
10	chr14:21737121..21738626-chr14:21850627..21853188,2	K562	blood:

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000092200	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10133539	1.00[AMR][1000 genomes]
rs10142669	1.00[AMR][1000 genomes]
rs10142891	1.00[AMR][1000 genomes]
rs10145423	1.00[AMR][1000 genomes]
rs10148570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148961	1.00[AMR][1000 genomes]
rs10149383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150735	1.00[AMR][1000 genomes]
rs10150916	1.00[AMR][1000 genomes]
rs11846887	1.00[AMR][1000 genomes]
rs11848128	1.00[AMR][1000 genomes]
rs11848510	1.00[AMR][1000 genomes]
rs11849527	1.00[AMR][1000 genomes]
rs11849571	1.00[AMR][1000 genomes]
rs11850109	1.00[AMR][1000 genomes]
rs17092556	1.00[AMR][1000 genomes]
rs17102606	1.00[AMR][1000 genomes]
rs17102889	1.00[AMR][1000 genomes]
rs17103007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1957415	1.00[AMR][1000 genomes]
rs28510166	1.00[AMR][1000 genomes]
rs28609318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014450	1.00[AMR][1000 genomes]
rs8016283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9322956	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
15	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
16	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
17	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
18	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
21	nsv541987	chr14:21692703-21742729	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv541989	chr14:21696056-21742729	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv541990	chr14:21702771-21757737	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
25	nsv983804	chr14:21730434-21759672	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21734000-21738400	Active TSS	Right Ventricle	heart
2	chr14:21734000-21738600	Active TSS	Psoas Muscle	Psoas
3	chr14:21734200-21738400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:21734600-21738200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:21734800-21738200	Active TSS	Right Atrium	heart
6	chr14:21734800-21738600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:21735000-21738200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:21735000-21738200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr14:21735200-21738200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:21735200-21738200	Active TSS	Brain Anterior Caudate	brain
11	chr14:21735200-21738200	Active TSS	Fetal Stomach	stomach
12	chr14:21735200-21738200	Active TSS	Thymus	Thymus
13	chr14:21735200-21738400	Active TSS	Colonic Mucosa	Colon
14	chr14:21735200-21738400	Active TSS	Left Ventricle	heart
15	chr14:21735400-21738200	Active TSS	HSMMtube	muscle
16	chr14:21735600-21738200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:21735800-21738200	Active TSS	Brain Hippocampus Middle	brain
18	chr14:21735800-21738200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr14:21736000-21738200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:21736000-21738200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr14:21736000-21738200	Bivalent/Poised TSS	HepG2	liver
22	chr14:21736200-21738200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr14:21736200-21738200	Active TSS	Brain Cingulate Gyrus	brain
24	chr14:21736200-21738200	Active TSS	Brain Substantia Nigra	brain
25	chr14:21736200-21738600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:21736200-21738600	Active TSS	Brain Angular Gyrus	brain
27	chr14:21736400-21738200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:21736400-21738200	Active TSS	Liver	Liver
29	chr14:21736400-21738200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr14:21736400-21738200	Active TSS	Colon Smooth Muscle	Colon
31	chr14:21736800-21738200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:21736800-21738200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:21736800-21738200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:21736800-21738200	Active TSS	Primary T cells from cord blood	blood
35	chr14:21736800-21738200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr14:21736800-21738200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:21736800-21738200	Active TSS	Fetal Brain Female	brain
38	chr14:21736800-21738200	Active TSS	Fetal Intestine Large	intestine
39	chr14:21736800-21738200	Active TSS	GM12878-XiMat	blood
40	chr14:21736800-21738200	Active TSS	HSMM	muscle
41	chr14:21736800-21738200	Active TSS	NH-A	brain
42	chr14:21736800-21738400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:21737000-21738200	Active TSS	Fetal Lung	lung
44	chr14:21737000-21738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:21737000-21738600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:21737200-21738200	Active TSS	Primary B cells from cord blood	blood
47	chr14:21737200-21738200	Active TSS	A549	lung
48	chr14:21737200-21738200	Active TSS	K562	blood
49	chr14:21737400-21738200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr14:21737400-21738200	Active TSS	Brain Germinal Matrix	brain

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