Variant report

Variant	rs114065969
Chromosome Location	chr14:104181325-104181326
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	POLR2A	chr14:104181307-104182494	PFSK-1	brain:	n/a	n/a
2	E2F6	chr14:104181291-104183150	K562	blood:	n/a	chr14:104181782-104181794 chr14:104182507-104182519 chr14:104181781-104181792
3	POLR2A	chr14:104181245-104182382	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:104181224-104182428	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr14:104181314-104182073	A549	lung:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
6	POLR2A	chr14:104181269-104182384	HL-60	blood:	n/a	n/a
7	E2F6	chr14:104181253-104182370	H1-hESC	embryonic stem cell:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
8	POLR2A	chr14:104181305-104182406	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr14:104181232-104183975	IMR90	lung:	n/a	n/a
10	POLR2A	chr14:104181287-104181963	GM12878	blood:	n/a	n/a
11	E2F6	chr14:104181316-104181948	K562	blood:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
12	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
13	POLR2A	chr14:104181321-104181953	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr14:104181237-104182435	ECC-1	luminal epithelium:	n/a	chr14:104181523-104181532
15	SIN3AK20	chr14:104181280-104182255	SK-N-SH	brain:	n/a	n/a
16	HCFC1	chr14:104180802-104182405	Hela-S3	cervix:	n/a	n/a
17	MAX	chr14:104181270-104183034	HepG2	liver:	n/a	chr14:104181523-104181532
18	YY1	chr14:104181321-104181878	GM12892	blood:	n/a	chr14:104181427-104181441
19	MAX	chr14:104181209-104182137	MCF-7	breast:	n/a	chr14:104181523-104181532
20	MYC	chr14:104181324-104182350	K562	blood:	n/a	chr14:104181523-104181532
21	MAX	chr14:104181306-104182465	HepG2	liver:	n/a	chr14:104181523-104181532
22	MAX	chr14:104181286-104182336	H1-hESC	embryonic stem cell:	n/a	chr14:104181523-104181532
23	POLR2A	chr14:104181324-104182395	Raji	blood:	n/a	n/a
24	MYC	chr14:104181179-104182239	MCF10A-Er-Src	breast:	n/a	chr14:104181523-104181532
25	ZBTB7A	chr14:104181295-104182466	ECC-1	luminal epithelium:	n/a	chr14:104181490-104181498
26	E2F6	chr14:104181230-104182296	A549	lung:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
27	ZBTB7A	chr14:104181247-104181955	ECC-1	luminal epithelium:	n/a	chr14:104181490-104181498
28	TCF12	chr14:104181207-104182393	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:104181226-104181988	K562	blood:	n/a	n/a
30	MAX	chr14:104181238-104182358	ECC-1	luminal epithelium:	n/a	chr14:104181523-104181532
31	POLR2A	chr14:104181284-104182305	GM12891	blood:	n/a	n/a
32	MAX	chr14:104181260-104182407	A549	lung:	n/a	chr14:104181523-104181532
33	POLR2A	chr14:104181265-104182550	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr14:104181247-104182341	Hela-S3	cervix:	n/a	chr14:104181523-104181532
35	POLR2A	chr14:104178955-104182843	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr14:104181324-104182265	Hela-S3	cervix:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
37	POLR2A	chr14:104181290-104182377	GM12892	blood:	n/a	n/a
38	POLR2A	chr14:104181287-104182477	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:104181228-104182363	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:104180767-104183170	HepG2	liver:	n/a	n/a
41	E2F6	chr14:104181322-104182345	H1-hESC	embryonic stem cell:	n/a	chr14:104181782-104181794 chr14:104181781-104181792
42	JUN	chr14:104181287-104182344	K562	blood:	n/a	chr14:104181879-104181889 chr14:104181849-104181858 chr14:104181584-104181595
43	ELF1	chr14:104181237-104182312	GM12878	blood:	n/a	chr14:104181566-104181578
44	MXI1	chr14:104180640-104183048	SK-N-SH	brain:	n/a	n/a
45	E2F4	chr14:104180846-104182172	MCF10A-Er-Src	breast:	n/a	chr14:104181758-104181769 chr14:104181782-104181794 chr14:104181781-104181792
46	SMARCB1	chr14:104181288-104183119	Hela-S3	cervix:	n/a	n/a
47	MYC	chr14:104181219-104182163	A549	lung:	n/a	chr14:104181523-104181532
48	POLR2A	chr14:104181239-104181894	HL-60	blood:	n/a	n/a
49	NR2F2	chr14:104181239-104182419	MCF-7	breast:	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	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
4	chr14:104178608..104186342-chr14:104186894..104193138,16	K562	blood:
5	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
6	chr14:104181282..104181917-chr6:30457138..30457957,2	Hela-S3	cervix:
7	chr14:104095098..104097162-chr14:104179460..104182190,3	K562	blood:
8	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
9	chr14:103993654..103996154-chr14:104180669..104183057,2	K562	blood:
10	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
11	chr14:104093419..104097122-chr14:104180603..104183015,4	K562	blood:
12	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:

Variant related genes	Relation type
XRCC3	TF binding region
ZFYVE21	TF binding region
ENSG00000166170	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000264904	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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
27	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
28	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104178200-104181400	Weak transcription	HSMMtube	muscle
2	chr14:104178400-104181400	Weak transcription	Aorta	Aorta
3	chr14:104178800-104181400	Weak transcription	Liver	Liver
4	chr14:104179200-104181400	Weak transcription	Small Intestine	intestine
5	chr14:104179200-104181400	Weak transcription	NHDF-Ad	bronchial
6	chr14:104180000-104181400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:104180000-104181400	Weak transcription	Lung	lung
8	chr14:104180400-104181400	Weak transcription	Gastric	stomach
9	chr14:104180400-104181400	Flanking Active TSS	HepG2	liver
10	chr14:104180400-104183200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:104180400-104183600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr14:104180400-104183800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:104180600-104181400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:104180600-104181400	Flanking Active TSS	Fetal Thymus	thymus
15	chr14:104180600-104181400	Weak transcription	Pancreas	Pancrea
16	chr14:104180600-104181400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:104180600-104181600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr14:104180600-104181600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:104180600-104181600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr14:104180600-104181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr14:104180600-104181800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:104180600-104182800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:104180600-104183200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr14:104180600-104183200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr14:104180600-104183600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:104180600-104184000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:104180800-104181400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:104180800-104181400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:104180800-104181400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr14:104180800-104181400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr14:104180800-104181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:104180800-104181600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:104180800-104181600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr14:104180800-104181600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:104180800-104182600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:104180800-104182600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:104180800-104182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:104180800-104182800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr14:104180800-104182800	Weak transcription	Stomach Mucosa	stomach
40	chr14:104180800-104182800	Active TSS	NH-A	brain
41	chr14:104180800-104183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:104180800-104183000	Active TSS	GM12878-XiMat	blood
43	chr14:104180800-104183800	Active TSS	Right Ventricle	heart
44	chr14:104181000-104181400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr14:104181000-104181400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:104181000-104181400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:104181000-104181400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr14:104181000-104181400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:104181000-104181400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:104181000-104181400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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