Variant report

Variant	rs541475644
Chromosome Location	chr14:21341976-21341977
allele	A/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	CTCF	chr14:21341880-21342030	HPAF	blood vessel:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
2	CTCF	chr14:21341900-21342050	GM12867	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
3	TBP	chr14:21341896-21342268	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr14:21341842-21342077	LNCaP	prostate:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
5	CTCF	chr14:21341860-21342010	Hela-S3	cervix:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
6	CTCF	chr14:21341880-21342030	AG09319	gingival:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
7	TAF7	chr14:21341808-21342276	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:21341839-21342105	K562	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
9	CTCF	chr14:21341920-21342070	Caco-2	colon:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
10	CTCF	chr14:21341840-21341990	HFF-Myc	foreskin:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
11	CTCF	chr14:21341900-21342050	GM12874	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
12	CTCF	chr14:21341900-21342050	GM12868	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
13	MXI1	chr14:21341911-21342389	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr14:21341900-21342050	Hela-S3	cervix:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
15	RAD21	chr14:21341793-21342124	HepG2	liver:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
16	YY1	chr14:21341824-21342303	H1-hESC	embryonic stem cell:	n/a	chr14:21341954-21341968
17	CTCF	chr14:21341860-21342010	AG09319	gingival:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
18	E2F6	chr14:21341776-21342396	H1-hESC	embryonic stem cell:	n/a	chr14:21342114-21342121 chr14:21342114-21342121 chr14:21342113-21342122 chr14:21342113-21342125 chr14:21342114-21342121
19	SIX5	chr14:21341967-21342180	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:21341827-21342516	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:21341900-21342050	HVMF	connective:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
22	CTCF	chr14:21341940-21342090	NHLF	lung:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
23	ZC3H11A	chr14:21341976-21342040	K562	blood:	n/a	n/a
24	CTCF	chr14:21341860-21342010	GM12865	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
25	MAX	chr14:21341864-21342095	K562	blood:	n/a	n/a
26	CTCF	chr14:21341844-21342114	ProgFib	skin:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
27	RAD21	chr14:21341776-21342166	HepG2	liver:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
28	POLR2A	chr14:21341857-21342260	HCT-116	colon:	n/a	n/a
29	TAF1	chr14:21341811-21342420	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:21341644-21342303	SK-N-SH	brain:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
31	CTCF	chr14:21341847-21342085	NHEK	skin:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
32	CTCF	chr14:21341900-21342050	GM12866	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
33	GABPA	chr14:21341738-21342343	A549	lung:	n/a	n/a
34	CEBPB	chr14:21341896-21342213	MCF-7	breast:	n/a	n/a
35	MAX	chr14:21341866-21342243	A549	lung:	n/a	n/a
36	CTCF	chr14:21341920-21342070	HCT-116	colon:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
37	CEBPB	chr14:21341879-21342172	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:21341771-21342479	SK-N-MC	brain:	n/a	n/a
39	CTCF	chr14:21341880-21342030	AG10803	skin:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
40	THAP1	chr14:21341888-21342094	K562	blood:	n/a	n/a
41	CTCF	chr14:21341900-21342050	HMF	breast:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
42	ZNF143	chr14:21341779-21342263	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr14:21341798-21342106	K562	blood:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
44	CTCF	chr14:21341869-21342087	GM10248	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
45	E2F6	chr14:21341912-21342186	K562	blood:	n/a	chr14:21342114-21342121 chr14:21342114-21342121 chr14:21342113-21342122 chr14:21342113-21342125 chr14:21342114-21342121
46	CTCF	chr14:21341880-21342030	HAc	cerebellar:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
47	CREB1	chr14:21341864-21342173	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr14:21341857-21342106	H1-hESC	embryonic stem cell:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
49	ELF1	chr14:21341871-21342081	K562	blood:	n/a	n/a
50	CTCF	chr14:21341821-21342105	GM10266	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21325580..21326139-chr14:21341851..21342353,2	MCF-7	breast:
2	chr14:21341929..21342586-chr14:21439203..21440051,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE1-1	chr14:21341079-21342995	XLOC_010966

Variant related genes	Relation type
ENSG00000259130	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1036728	chr14:21338459-21409969	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1045451	chr14:21340639-21402584	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv9121	chr14:21341903-21426649	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv983967	chr14:21341911-21433655	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870262	chr14:21341929-21412012	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21341200-21342200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr14:21341200-21342200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:21341200-21342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:21341200-21342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:21341200-21342600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:21341200-21343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:21341400-21342200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:21341400-21342200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:21341400-21342200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:21341400-21342200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:21341400-21342200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:21341400-21342400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr14:21341400-21342400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:21341400-21342400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:21341400-21342400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:21341400-21342400	Enhancers	Brain Anterior Caudate	brain
17	chr14:21341400-21342600	Enhancers	Primary B cells from cord blood	blood
18	chr14:21341400-21342600	Enhancers	Spleen	Spleen
19	chr14:21341400-21342600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:21341600-21342000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr14:21341600-21342000	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr14:21341600-21342000	Enhancers	Colon Smooth Muscle	Colon
23	chr14:21341600-21342000	Active TSS	GM12878-XiMat	blood
24	chr14:21341600-21342000	Enhancers	HUVEC	blood vessel
25	chr14:21341600-21342200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:21341600-21342200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:21341600-21342200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:21341600-21342200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:21341600-21342200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:21341600-21342200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:21341600-21342200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21341600-21342200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:21341600-21342200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:21341600-21342200	Active TSS	Fetal Kidney	kidney
35	chr14:21341600-21342200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:21341600-21342200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr14:21341600-21342200	Enhancers	Thymus	Thymus
38	chr14:21341600-21342200	Flanking Active TSS	Dnd41	blood
39	chr14:21341600-21342200	Active TSS	K562	blood
40	chr14:21341600-21342400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:21341600-21342400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:21341600-21342400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr14:21341600-21342400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr14:21341600-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:21341600-21342400	Enhancers	Liver	Liver
46	chr14:21341600-21342400	Active TSS	Brain Hippocampus Middle	brain
47	chr14:21341600-21342400	Bivalent Enhancer	HepG2	liver
48	chr14:21341600-21342600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:21341600-21342600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr14:21341800-21342000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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