Variant report

Variant	rs559103824
Chromosome Location	chr14:104182711-104182712
allele	C/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	E2F6	chr14:104181291-104183150	K562	blood:	n/a	chr14:104181782-104181794 chr14:104182507-104182519 chr14:104181781-104181792
2	MAX	chr14:104182573-104183112	NB4	blood:	n/a	chr14:104183049-104183058
3	POLR2A	chr14:104181469-104185425	IMR90	lung:	n/a	n/a
4	POLR2A	chr14:104182621-104182905	ECC-1	luminal epithelium:	n/a	n/a
5	CCNT2	chr14:104181401-104182801	K562	blood:	n/a	n/a
6	MXI1	chr14:104181232-104183975	IMR90	lung:	n/a	n/a
7	MAZ	chr14:104181258-104183404	IMR90	lung:	n/a	chr14:104181523-104181532 chr14:104183290-104183301 chr14:104183293-104183300 chr14:104183286-104183305 chr14:104183049-104183058 chr14:104183287-104183302 chr14:104183291-104183298
8	POLR2A	chr14:104182578-104183477	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr14:104182654-104182820	HepG2	liver:	n/a	n/a
10	RCOR1	chr14:104182709-104182722	K562	blood:	n/a	n/a
11	UBTF	chr14:104181347-104183817	K562	blood:	n/a	n/a
12	MAX	chr14:104181270-104183034	HepG2	liver:	n/a	chr14:104181523-104181532
13	MAX	chr14:104182465-104183178	ECC-1	luminal epithelium:	n/a	chr14:104183049-104183058
14	POLR2A	chr14:104182707-104182728	ProgFib	skin:	n/a	n/a
15	UBTF	chr14:104182678-104182888	K562	blood:	n/a	n/a
16	ZBTB7A	chr14:104181961-104183066	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr14:104182005-104183153	K562	blood:	n/a	n/a
18	MYC	chr14:104182519-104182932	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:104182641-104182735	GM12878	blood:	n/a	n/a
20	MXI1	chr14:104182615-104182856	GM12878	blood:	n/a	n/a
21	HMGN3	chr14:104181366-104183155	K562	blood:	n/a	n/a
22	POLR2A	chr14:104182507-104182933	ECC-1	luminal epithelium:	n/a	n/a
23	MAZ	chr14:104182615-104182821	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:104182646-104183073	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr14:104182544-104182855	SK-N-SH	brain:	n/a	n/a
26	MAX	chr14:104182557-104182894	K562	blood:	n/a	n/a
27	MAZ	chr14:104181611-104182730	GM12878	blood:	n/a	n/a
28	MAZ	chr14:104181472-104183167	K562	blood:	n/a	chr14:104181523-104181532 chr14:104183049-104183058
29	POLR2A	chr14:104182580-104182797	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr14:104178955-104182843	Hela-S3	cervix:	n/a	n/a
31	MYC	chr14:104182559-104182918	NB4	blood:	n/a	n/a
32	SIN3A	chr14:104182652-104182769	GM12878	blood:	n/a	chr14:104182747-104182760
33	MAX	chr14:104182594-104182933	SK-N-SH	brain:	n/a	n/a
34	SIN3A	chr14:104181376-104183454	H1-hESC	embryonic stem cell:	n/a	chr14:104182747-104182760 chr14:104182625-104182638 chr14:104182765-104182774
35	ELF1	chr14:104182515-104183234	GM12878	blood:	n/a	chr14:104182756-104182765
36	POLR2A	chr14:104180767-104183170	HepG2	liver:	n/a	n/a
37	POLR2A	chr14:104181371-104182988	MCF-7	breast:	n/a	n/a
38	MXI1	chr14:104180640-104183048	SK-N-SH	brain:	n/a	n/a
39	MTA3	chr14:104182683-104183220	GM12878	blood:	n/a	n/a
40	ELF1	chr14:104182608-104182903	K562	blood:	n/a	chr14:104182756-104182765
41	SMARCB1	chr14:104181288-104183119	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:104182486-104182758	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr14:104182588-104182811	K562	blood:	n/a	n/a
44	POLR2A	chr14:104181340-104182850	HUVEC	blood vessel:	n/a	n/a
45	MXI1	chr14:104181423-104182880	HepG2	liver:	n/a	n/a
46	MAX	chr14:104182488-104182961	ECC-1	luminal epithelium:	n/a	n/a
47	RCOR1	chr14:104182618-104182769	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:104182683-104182750	MCF-7	breast:	n/a	n/a
49	MYC	chr14:104182706-104182790	K562	blood:	n/a	n/a
50	MAX	chr14:104181242-104183334	MCF-7	breast:	n/a	chr14:104181523-104181532 chr14:104183290-104183301 chr14:104183293-104183300 chr14:104183286-104183305 chr14:104183049-104183058 chr14:104183287-104183302 chr14:104183291-104183298

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	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
4	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
5	chr14:104178608..104186342-chr14:104186894..104193138,16	K562	blood:
6	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
7	chr14:103993654..103996154-chr14:104180669..104183057,2	K562	blood:
8	chr14:104093419..104097122-chr14:104180603..104183015,4	K562	blood:
9	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:

Variant related genes	Relation type
XRCC3	TF binding region
ENSG00000264904	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166166	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
21	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
22	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
23	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
24	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
25	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
26	nsv9171	chr14:104180554-104183208	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
27	esv3342837	chr14:104180724-104183572	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
28	esv3396463	chr14:104181449-104183347	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
29	nsv827071	chr14:104181802-104183033	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 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	chr14:104180400-104183200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:104180400-104183600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:104180400-104183800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:104180600-104182800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:104180600-104183200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:104180600-104183200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:104180600-104183600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:104180600-104184000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:104180800-104182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:104180800-104182800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:104180800-104182800	Weak transcription	Stomach Mucosa	stomach
12	chr14:104180800-104182800	Active TSS	NH-A	brain
13	chr14:104180800-104183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr14:104180800-104183000	Active TSS	GM12878-XiMat	blood
15	chr14:104180800-104183800	Active TSS	Right Ventricle	heart
16	chr14:104181000-104182800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:104181000-104182800	Active TSS	Primary T cells from cord blood	blood
18	chr14:104181000-104182800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:104181000-104182800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:104181000-104182800	Weak transcription	Fetal Heart	heart
21	chr14:104181000-104182800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:104181000-104182800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:104181000-104182800	Active TSS	Thymus	Thymus
24	chr14:104181000-104182800	Active TSS	Dnd41	blood
25	chr14:104181000-104182800	Active TSS	HMEC	breast
26	chr14:104181000-104182800	Active TSS	HUVEC	blood vessel
27	chr14:104181000-104183000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:104181000-104183000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:104181000-104183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:104181000-104183000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:104181000-104183000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:104181000-104183000	Active TSS	A549	lung
33	chr14:104181000-104183000	Active TSS	Hela-S3	cervix
34	chr14:104181000-104183000	Active TSS	NHLF	lung
35	chr14:104181000-104183000	Active TSS	Osteobl	bone
36	chr14:104181000-104183200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:104181000-104183200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:104181000-104183200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:104181000-104183200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:104181000-104183200	Active TSS	K562	blood
41	chr14:104181000-104183200	Active TSS	NHEK	skin
42	chr14:104181000-104183400	Active TSS	Brain Anterior Caudate	brain
43	chr14:104181000-104183600	Active TSS	Brain Cingulate Gyrus	brain
44	chr14:104181000-104183600	Active TSS	HSMM	muscle
45	chr14:104181000-104183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:104181000-104183800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:104181200-104182800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:104181200-104182800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:104181200-104182800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:104181200-104182800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links