Variant report

Variant	rs3212028
Chromosome Location	chr14:104180393-104180394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104180141-104180552	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:104180269-104180439	ProgFib	skin:	n/a	n/a
3	POLR2A	chr14:104180095-104180570	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:104179977-104180759	K562	blood:	n/a	n/a
5	POLR2A	chr14:104178819-104180617	HEK293	kidney:	n/a	n/a
6	POLR2A	chr14:104178073-104180844	GM19193	blood:	n/a	n/a
7	POLR2A	chr14:104178798-104180599	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:104177685-104180996	K562	blood:	n/a	n/a
9	POLR2A	chr14:104176765-104181219	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr14:104180126-104180400	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:104178803-104180762	GM12891	blood:	n/a	n/a
12	POLR2A	chr14:104179676-104180445	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:104179662-104180768	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:104180116-104180857	U87	brain:	n/a	n/a
15	POLR2A	chr14:104180248-104180525	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:104179870-104180506	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:104180388-104180848	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:104180341-104180535	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:104178166-104180750	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:104177166-104181233	K562	blood:	n/a	n/a
21	POLR2A	chr14:104178955-104182843	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:104177162-104180671	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:104179535-104180440	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:104178681-104180824	GM12891	blood:	n/a	n/a
25	POLR2A	chr14:104179594-104180807	K562	blood:	n/a	n/a
26	ZNF263	chr14:104179698-104180669	HEK293-T-REx	kidney:	n/a	chr14:104180511-104180520 chr14:104180501-104180510
27	POLR2A	chr14:104177943-104181042	HL-60	blood:	n/a	n/a
28	POLR2A	chr14:104179268-104181003	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:104178653-104180702	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:104178723-104181015	Raji	blood:	n/a	n/a
31	POLR2A	chr14:104178969-104180730	A549	lung:	n/a	n/a
32	POLR2A	chr14:104178083-104180769	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:104177336-104180928	GM12892	blood:	n/a	n/a
34	POLR2A	chr14:104179700-104180553	GM12892	blood:	n/a	n/a
35	POLR2A	chr14:104177987-104180767	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:104177645-104180774	GM12892	blood:	n/a	n/a
37	HEY1	chr14:104180126-104180595	K562	blood:	n/a	n/a
38	POLR2A	chr14:104179537-104180605	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:104179655-104180579	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:104180371-104180856	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr14:104179600-104180783	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:104180360-104180616	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr14:104180122-104180748	U87	brain:	n/a	n/a
44	POLR2A	chr14:104177466-104180933	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104092649..104097026-chr14:104179930..104185119,7	MCF-7	breast:
2	chr14:104091773..104098220-chr14:104179036..104183968,10	MCF-7	breast:
3	chr14:104178608..104186342-chr14:104186894..104193138,16	K562	blood:
4	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
5	chr14:104095098..104097162-chr14:104179460..104182190,3	K562	blood:
6	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
7	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:

No data

Variant related genes	Relation type
ZFYVE21	TF binding region
XRCC3	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000264904	Chromatin interaction
ENSG00000253096	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11160763	1.00[AFR][1000 genomes]
rs17292804	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55798317	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS 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
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised 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	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv1796914	chr14:104159882-104181369	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
23	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
24	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
25	nsv902316	chr14:104173823-104195161	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv902317	chr14:104175676-104194278	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3212028	MARK3	cis	cerebellum	SCAN
rs3212028	ZFYVE21	cis	cerebellum	SCAN
rs3212028	C14orf153	cis	parietal	SCAN
rs3212028	MARK3	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104161200-104180400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:104165400-104180400	Strong transcription	Thymus	Thymus
3	chr14:104172600-104180600	Weak transcription	Primary B cells from cord blood	blood
4	chr14:104173000-104180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:104174600-104180400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:104174800-104180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:104175000-104180600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:104175200-104180600	Weak transcription	Fetal Lung	lung
9	chr14:104175200-104181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:104175600-104180400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:104175800-104180400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:104175800-104180800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:104176000-104180600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:104176200-104180400	Weak transcription	Fetal Brain Female	brain
15	chr14:104176400-104180600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:104176400-104180600	Weak transcription	Brain Angular Gyrus	brain
17	chr14:104176400-104180800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:104177200-104180400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:104177400-104180400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:104177400-104180400	Enhancers	Gastric	stomach
21	chr14:104177400-104180600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:104177400-104180600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr14:104177400-104180800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:104177600-104180400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:104177600-104180400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:104177600-104180600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:104177600-104180800	Enhancers	Right Ventricle	heart
28	chr14:104177600-104181200	Enhancers	Esophagus	oesophagus
29	chr14:104177800-104180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:104177800-104180400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:104177800-104180400	Enhancers	Left Ventricle	heart
32	chr14:104177800-104180600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:104177800-104180600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:104177800-104180600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:104178000-104180600	Enhancers	Ovary	ovary
36	chr14:104178000-104180600	Enhancers	Pancreas	Pancrea
37	chr14:104178000-104180600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr14:104178000-104180800	Enhancers	Fetal Muscle Leg	muscle
39	chr14:104178000-104181000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr14:104178000-104181000	Enhancers	Placenta	Placenta
41	chr14:104178200-104180600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:104178200-104181000	Enhancers	Colon Smooth Muscle	Colon
43	chr14:104178200-104181400	Weak transcription	HSMMtube	muscle
44	chr14:104178400-104181400	Weak transcription	Aorta	Aorta
45	chr14:104178600-104181200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:104178600-104181200	Weak transcription	Psoas Muscle	Psoas
47	chr14:104178800-104180600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:104178800-104180600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:104178800-104180600	Enhancers	Brain Germinal Matrix	brain
50	chr14:104178800-104181200	Weak transcription	Brain Hippocampus Middle	brain

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