Variant report

Variant	rs3762163
Chromosome Location	chr14:21979865-21979866
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	SP1	chr14:21979157-21979870	A549	lung:	n/a	n/a
2	POLR2A	chr14:21978749-21979958	K562	blood:	n/a	n/a
3	POLR2A	chr14:21978901-21979928	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:21978731-21979913	K562	blood:	n/a	n/a
5	POLR2A	chr14:21978848-21980445	HepG2	liver:	n/a	n/a
6	MYC	chr14:21978858-21979890	K562	blood:	n/a	n/a
7	YY1	chr14:21978889-21979879	GM12892	blood:	n/a	chr14:21979651-21979670 chr14:21979678-21979697 chr14:21979683-21979691 chr14:21979629-21979651 chr14:21979653-21979675 chr14:21979680-21979690 chr14:21979656-21979664 chr14:21979680-21979702 chr14:21979653-21979663 chr14:21979632-21979640
8	POLR2A	chr14:21978849-21979952	HL-60	blood:	n/a	n/a
9	POLR2A	chr14:21978261-21980520	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr14:21978946-21979865	HCT-116	colon:	n/a	n/a
11	POLR2A	chr14:21979061-21979891	HepG2	liver:	n/a	n/a
12	HEY1	chr14:21978752-21979971	HepG2	liver:	n/a	n/a
13	YY1	chr14:21978952-21980023	H1-hESC	embryonic stem cell:	n/a	chr14:21979651-21979670 chr14:21979678-21979697 chr14:21979683-21979691 chr14:21979629-21979651 chr14:21979653-21979675 chr14:21979680-21979690 chr14:21979656-21979664 chr14:21979680-21979702 chr14:21979653-21979663 chr14:21979632-21979640
14	POLR2A	chr14:21978793-21979938	PBDE	blood:	n/a	n/a
15	POLR2A	chr14:21978675-21979996	MCF10A-Er-Src	breast:	n/a	n/a
16	TAF1	chr14:21979116-21979875	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:21978979-21979939	GM12892	blood:	n/a	n/a
18	NRF1	chr14:21979034-21979865	SK-N-SH	brain:	n/a	chr14:21979673-21979682
19	SP1	chr14:21979095-21979878	A549	lung:	n/a	n/a
20	EGR1	chr14:21979133-21979952	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr14:21978774-21979945	A549	lung:	n/a	n/a
22	GABPA	chr14:21979072-21979889	A549	lung:	n/a	chr14:21979673-21979682
23	POLR2A	chr14:21979026-21979970	ProgFib	skin:	n/a	n/a
24	POLR2A	chr14:21978541-21979947	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr14:21979189-21979916	K562	blood:	n/a	n/a
26	YY1	chr14:21978820-21980254	HepG2	liver:	n/a	chr14:21979651-21979670 chr14:21979678-21979697 chr14:21979683-21979691 chr14:21979629-21979651 chr14:21979653-21979675 chr14:21979680-21979690 chr14:21979656-21979664 chr14:21979680-21979702 chr14:21979653-21979663 chr14:21979632-21979640
27	ELF1	chr14:21978901-21979902	MCF-7	breast:	n/a	n/a
28	POLR2A	chr14:21978947-21979880	HEK293	kidney:	n/a	n/a
29	CBX3	chr14:21979188-21979868	K562	blood:	n/a	n/a
30	RCOR1	chr14:21979133-21980102	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:21978516-21979952	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:21979148-21979916	HCT-116	colon:	n/a	n/a
33	POLR2A	chr14:21978849-21980164	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr14:21978992-21979953	MCF-7	breast:	n/a	n/a
35	POLR2A	chr14:21978863-21979873	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr14:21978879-21979912	NB4	blood:	n/a	n/a
37	POLR2A	chr14:21978638-21980001	GM12892	blood:	n/a	n/a
38	POLR2A	chr14:21979235-21979890	SK-N-MC	brain:	n/a	n/a
39	SIX5	chr14:21979141-21979909	A549	lung:	n/a	chr14:21979377-21979393
40	POLR2A	chr14:21979091-21979893	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr14:21978866-21979912	GM19193	blood:	n/a	n/a
42	POLR2A	chr14:21978963-21979911	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:21978629-21979906	GM12891	blood:	n/a	n/a
44	POLR2A	chr14:21978482-21979989	GM12892	blood:	n/a	n/a
45	CREB1	chr14:21978805-21979917	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:21979053-21979888	HUVEC	blood vessel:	n/a	n/a
47	YY1	chr14:21979089-21979912	NT2-D1	testis:	n/a	chr14:21979651-21979670 chr14:21979678-21979697 chr14:21979683-21979691 chr14:21979629-21979651 chr14:21979653-21979675 chr14:21979680-21979690 chr14:21979656-21979664 chr14:21979680-21979702 chr14:21979653-21979663 chr14:21979632-21979640
48	YY1	chr14:21978814-21980000	K562	blood:	n/a	chr14:21979651-21979670 chr14:21979678-21979697 chr14:21979683-21979691 chr14:21979629-21979651 chr14:21979653-21979675 chr14:21979680-21979690 chr14:21979656-21979664 chr14:21979680-21979702 chr14:21979653-21979663 chr14:21979632-21979640
49	HCFC1	chr14:21978619-21980706	Hela-S3	cervix:	n/a	n/a
50	PML	chr14:21979208-21979888	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21978010..21981856-chr14:21985023..21989241,7	MCF-7	breast:
3	chr14:21977989..21980901-chr14:22001631..22005636,4	K562	blood:
4	chr14:21851357..21853196-chr14:21978251..21980149,2	K562	blood:
5	chr14:21979374..21979993-chr17:48944606..48945590,2	Hela-S3	cervix:
6	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
7	chr14:21969916..21972018-chr14:21978032..21980758,3	K562	blood:
8	chr14:21943699..21946735-chr14:21977733..21982256,4	MCF-7	breast:
9	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
10	chr14:21979626..21980207-chr14:35451381..35451961,2	Hela-S3	cervix:
11	chr14:21972318..21975113-chr14:21978008..21980143,3	K562	blood:
12	chr10:65280776..65281484-chr14:21979623..21980145,2	Hela-S3	cervix:
13	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
14	chr14:21979579..21981234-chr14:21982040..21984271,2	MCF-7	breast:
15	chr14:21851427..21853981-chr14:21978345..21981165,2	MCF-7	breast:
16	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:
17	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
18	chr14:21953304..21957637-chr14:21977622..21980273,4	K562	blood:
19	chr14:21977974..21981747-chr14:21991693..21997000,9	MCF-7	breast:
20	chr14:21958167..21960481-chr14:21978207..21981018,2	MCF-7	breast:
21	chr10:73975576..73976228-chr14:21978948..21979893,2	MCF-7	breast:

Variant related genes	Relation type
METTL3	TF binding region
ENSG00000100888	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000138303	Chromatin interaction
ENSG00000165476	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000257096	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000165821	Chromatin interaction
ENSG00000166295	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000141232	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10450907	0.91[EUR][1000 genomes]
rs10450908	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1061027	0.86[EUR][1000 genomes]
rs11850178	0.86[EUR][1000 genomes]
rs11852218	0.85[EUR][1000 genomes]
rs13329035	0.86[EUR][1000 genomes]
rs17516362	0.83[EUR][1000 genomes]
rs17792712	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3168880	0.88[EUR][1000 genomes]
rs55690316	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61973218	0.86[EUR][1000 genomes]
rs61973219	0.87[EUR][1000 genomes]
rs61973220	0.87[EUR][1000 genomes]
rs61973223	0.85[EUR][1000 genomes]
rs66771279	0.87[EUR][1000 genomes]
rs719785	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3762163	METTL3	Cis_1M	lymphoblastoid	RTeQTL
rs3762163	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21977800-21980000	Active TSS	K562	blood
2	chr14:21977800-21980200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:21977800-21980200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:21977800-21980200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr14:21977800-21980400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:21978000-21980200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:21978000-21980200	Active TSS	Psoas Muscle	Psoas
8	chr14:21978000-21980400	Active TSS	NHLF	lung
9	chr14:21978200-21980000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:21978200-21980200	Active TSS	Right Atrium	heart
11	chr14:21978200-21980200	Active TSS	Right Ventricle	heart
12	chr14:21978200-21980200	Active TSS	HMEC	breast
13	chr14:21978200-21980200	Active TSS	HSMM	muscle
14	chr14:21978200-21980200	Active TSS	NH-A	brain
15	chr14:21978200-21980400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:21978200-21980400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:21978200-21980600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:21978400-21980000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21978400-21980000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:21978400-21980000	Active TSS	Fetal Intestine Large	intestine
21	chr14:21978400-21980000	Active TSS	Fetal Intestine Small	intestine
22	chr14:21978400-21980200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:21978400-21980200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:21978400-21980200	Active TSS	Fetal Kidney	kidney
25	chr14:21978400-21980200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr14:21978400-21980200	Active TSS	Left Ventricle	heart
27	chr14:21978400-21980200	Active TSS	Ovary	ovary
28	chr14:21978400-21980200	Active TSS	NHDF-Ad	bronchial
29	chr14:21978400-21980400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:21978400-21980400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:21978400-21980400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:21978400-21980400	Active TSS	HSMMtube	muscle
33	chr14:21978400-21980600	Active TSS	GM12878-XiMat	blood
34	chr14:21978400-21980600	Active TSS	Hela-S3	cervix
35	chr14:21978600-21980000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:21978600-21980000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:21978600-21980000	Active TSS	Aorta	Aorta
38	chr14:21978600-21980000	Active TSS	Placenta	Placenta
39	chr14:21978600-21980000	Active TSS	Gastric	stomach
40	chr14:21978600-21980000	Active TSS	Lung	lung
41	chr14:21978600-21980000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr14:21978600-21980000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr14:21978600-21980000	Bivalent/Poised TSS	HepG2	liver
44	chr14:21978600-21980000	Active TSS	HUVEC	blood vessel
45	chr14:21978600-21980200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:21978600-21980200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:21978600-21980200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr14:21978600-21980200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:21978600-21980200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:21978600-21980200	Active TSS	Primary T helper cells PMA-I stimulated	--

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