Variant report

Variant	rs564332087
Chromosome Location	chr14:104182812-104182813
allele	A/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	MXI1	chr14:104181232-104183975	IMR90	lung:	n/a	n/a
6	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
7	POLR2A	chr14:104182578-104183477	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr14:104182654-104182820	HepG2	liver:	n/a	n/a
9	ZMIZ1	chr14:104182810-104182930	K562	blood:	n/a	n/a
10	UBTF	chr14:104181347-104183817	K562	blood:	n/a	n/a
11	MAX	chr14:104181270-104183034	HepG2	liver:	n/a	chr14:104181523-104181532
12	MAX	chr14:104182465-104183178	ECC-1	luminal epithelium:	n/a	chr14:104183049-104183058
13	UBTF	chr14:104182678-104182888	K562	blood:	n/a	n/a
14	ZBTB7A	chr14:104181961-104183066	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:104182005-104183153	K562	blood:	n/a	n/a
16	MYC	chr14:104182519-104182932	MCF-7	breast:	n/a	n/a
17	MXI1	chr14:104182615-104182856	GM12878	blood:	n/a	n/a
18	HMGN3	chr14:104181366-104183155	K562	blood:	n/a	n/a
19	POLR2A	chr14:104182507-104182933	ECC-1	luminal epithelium:	n/a	n/a
20	MAZ	chr14:104182615-104182821	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:104182646-104183073	HepG2	liver:	n/a	n/a
22	RUNX3	chr14:104182759-104183197	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr14:104182544-104182855	SK-N-SH	brain:	n/a	n/a
24	MAX	chr14:104182557-104182894	K562	blood:	n/a	n/a
25	MAZ	chr14:104181472-104183167	K562	blood:	n/a	chr14:104181523-104181532 chr14:104183049-104183058
26	RUNX3	chr14:104182793-104183154	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:104178955-104182843	Hela-S3	cervix:	n/a	n/a
28	MYC	chr14:104182559-104182918	NB4	blood:	n/a	n/a
29	MAX	chr14:104182594-104182933	SK-N-SH	brain:	n/a	n/a
30	SIN3A	chr14:104181376-104183454	H1-hESC	embryonic stem cell:	n/a	chr14:104182747-104182760 chr14:104182625-104182638 chr14:104182765-104182774
31	ELF1	chr14:104182515-104183234	GM12878	blood:	n/a	chr14:104182756-104182765
32	POLR2A	chr14:104180767-104183170	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:104181371-104182988	MCF-7	breast:	n/a	n/a
34	MXI1	chr14:104180640-104183048	SK-N-SH	brain:	n/a	n/a
35	MTA3	chr14:104182683-104183220	GM12878	blood:	n/a	n/a
36	ELF1	chr14:104182608-104182903	K562	blood:	n/a	chr14:104182756-104182765
37	EBF1	chr14:104182786-104183096	GM12878	blood:	n/a	n/a
38	SMARCB1	chr14:104181288-104183119	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr14:104181340-104182850	HUVEC	blood vessel:	n/a	n/a
40	MXI1	chr14:104181423-104182880	HepG2	liver:	n/a	n/a
41	MAX	chr14:104182488-104182961	ECC-1	luminal epithelium:	n/a	n/a
42	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
43	POLR2A	chr14:104182594-104182876	GM12878	blood:	n/a	n/a
44	MAX	chr14:104181224-104183621	K562	blood:	n/a	chr14:104181523-104181532 chr14:104183290-104183301 chr14:104183293-104183300 chr14:104183286-104183305 chr14:104183049-104183058 chr14:104183287-104183302 chr14:104183291-104183298
45	POLR2A	chr14:104181315-104183027	K562	blood:	n/a	n/a
46	MYC	chr14:104181340-104182915	K562	blood:	n/a	chr14:104181523-104181532
47	MAX	chr14:104181246-104183076	A549	lung:	n/a	chr14:104181523-104181532 chr14:104183049-104183058
48	ZBTB7A	chr14:104182014-104182957	K562	blood:	n/a	n/a
49	TAF1	chr14:104182529-104183159	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr14:104182682-104182924	GM12878	blood:	n/a	n/a

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
ENSG00000260285	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000264904	Chromatin interaction
ENSG00000100711	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	chr14:104180600-104183200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:104180600-104183200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:104180600-104183600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:104180600-104184000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:104180800-104183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr14:104180800-104183000	Active TSS	GM12878-XiMat	blood
10	chr14:104180800-104183800	Active TSS	Right Ventricle	heart
11	chr14:104181000-104183000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104181000-104183000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:104181000-104183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:104181000-104183000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:104181000-104183000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:104181000-104183000	Active TSS	A549	lung
17	chr14:104181000-104183000	Active TSS	Hela-S3	cervix
18	chr14:104181000-104183000	Active TSS	NHLF	lung
19	chr14:104181000-104183000	Active TSS	Osteobl	bone
20	chr14:104181000-104183200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:104181000-104183200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:104181000-104183200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:104181000-104183200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:104181000-104183200	Active TSS	K562	blood
25	chr14:104181000-104183200	Active TSS	NHEK	skin
26	chr14:104181000-104183400	Active TSS	Brain Anterior Caudate	brain
27	chr14:104181000-104183600	Active TSS	Brain Cingulate Gyrus	brain
28	chr14:104181000-104183600	Active TSS	HSMM	muscle
29	chr14:104181000-104183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:104181000-104183800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:104181200-104183000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:104181200-104183000	Active TSS	Brain Hippocampus Middle	brain
33	chr14:104181200-104183000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:104181200-104183000	Active TSS	Esophagus	oesophagus
35	chr14:104181200-104183000	Active TSS	Fetal Intestine Large	intestine
36	chr14:104181200-104183000	Active TSS	Fetal Intestine Small	intestine
37	chr14:104181200-104183400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:104181200-104183400	Active TSS	Brain Angular Gyrus	brain
39	chr14:104181200-104183400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:104181200-104183400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr14:104181200-104184800	Active TSS	Rectal Smooth Muscle	rectum
42	chr14:104181400-104183000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:104181400-104183000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr14:104181400-104183000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr14:104181400-104183000	Active TSS	Aorta	Aorta
46	chr14:104181400-104183000	Active TSS	Fetal Stomach	stomach
47	chr14:104181400-104183000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr14:104181400-104183000	Active TSS	Small Intestine	intestine
49	chr14:104181400-104183200	Active TSS	Brain Substantia Nigra	brain
50	chr14:104181400-104183200	Active TSS	Colon Smooth Muscle	Colon

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