Variant report

Variant	rs568953749
Chromosome Location	chr14:104027893-104027894
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	JUND	chr14:104027675-104027913	HepG2	liver:	n/a	chr14:104027796-104027807 chr14:104027897-104027906
2	CTCF	chr14:104027880-104028030	GM12868	blood:	n/a	n/a
3	POLR2A	chr14:104027813-104029763	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:104027792-104027976	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:104027723-104029500	IMR90	lung:	n/a	n/a
6	JUND	chr14:104027577-104028272	H1-hESC	embryonic stem cell:	n/a	chr14:104027796-104027807 chr14:104027897-104027906
7	POLR2A	chr14:104027795-104027981	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr14:104027602-104027903	K562	blood:	n/a	n/a
9	FOS	chr14:104027624-104027991	MCF10A-Er-Src	breast:	n/a	chr14:104027897-104027906
10	FOSL2	chr14:104027595-104027975	HepG2	liver:	n/a	chr14:104027897-104027906
11	POLR2A	chr14:104027750-104028109	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr14:104027820-104027970	AoAF	blood vessel:	n/a	n/a
13	JUND	chr14:104027696-104027910	K562	blood:	n/a	chr14:104027796-104027807 chr14:104027897-104027906
14	CTCF	chr14:104027840-104028110	MCF-7	breast:	n/a	n/a
15	SIN3A	chr14:104027720-104030129	H1-hESC	embryonic stem cell:	n/a	chr14:104028758-104028771 chr14:104028792-104028805 chr14:104028844-104028855 chr14:104028533-104028544 chr14:104028851-104028864 chr14:104029113-104029126 chr14:104029095-104029108
16	SPI1	chr14:104027812-104028545	HL-60	blood:	n/a	chr14:104028025-104028038
17	POLR2A	chr14:104027673-104029763	GM12878	blood:	n/a	n/a
18	WRNIP1	chr14:104027830-104028558	GM12878	blood:	n/a	n/a
19	CTCF	chr14:104027840-104027990	HEK293	kidney:	n/a	n/a
20	CTCF	chr14:104027820-104027970	NHEK	skin:	n/a	n/a
21	CTCF	chr14:104027760-104027910	Caco-2	colon:	n/a	n/a
22	CREB1	chr14:104027540-104028133	H1-hESC	embryonic stem cell:	n/a	n/a
23	HCFC1	chr14:104027237-104030166	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr14:104027394-104030066	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:104027860-104028010	GM12864	blood:	n/a	n/a
26	FOS	chr14:104027624-104028020	MCF10A-Er-Src	breast:	n/a	chr14:104027897-104027906
27	SMC3	chr14:104027847-104028294	Hela-S3	cervix:	n/a	n/a
28	HCFC1	chr14:104027871-104028005	K562	blood:	n/a	n/a
29	MXI1	chr14:104027853-104029809	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr14:104027800-104027950	GM12875	blood:	n/a	n/a
31	RCOR1	chr14:104027726-104028114	Hela-S3	cervix:	n/a	n/a
32	REST	chr14:104027727-104029942	H1-neurons	neurons:	n/a	chr14:104028758-104028771 chr14:104028121-104028130 chr14:104028792-104028805 chr14:104028123-104028130 chr14:104029104-104029117 chr14:104028789-104028802 chr14:104028796-104028805
33	CTCF	chr14:104027860-104028010	GM12873	blood:	n/a	n/a
34	CTCF	chr14:104027800-104027950	HEEpiC	esophagus:	n/a	n/a
35	POLR2A	chr14:104027824-104030167	GM12891	blood:	n/a	n/a
36	CTCF	chr14:104027820-104027970	HMEC	breast:	n/a	n/a
37	CTCF	chr14:104027800-104027950	HepG2	liver:	n/a	n/a
38	HA-E2F1	chr14:104027559-104029847	MCF-7	breast:	n/a	chr14:104028207-104028221 chr14:104028209-104028217 chr14:104028209-104028217 chr14:104028673-104028688 chr14:104029236-104029245
39	POLR2A	chr14:104027695-104029796	Hela-S3	cervix:	n/a	n/a
40	FOSL2	chr14:104027539-104028006	MCF-7	breast:	n/a	chr14:104027897-104027906
41	EP300	chr14:104027440-104028566	ECC-1	luminal epithelium:	n/a	n/a
42	GTF2F1	chr14:104027666-104028011	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr14:104027612-104029881	MCF-7	breast:	n/a	n/a
44	FOS	chr14:104027545-104027933	MCF10A-Er-Src	breast:	n/a	chr14:104027897-104027906
45	POLR2A	chr14:104027702-104027939	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr14:104027798-104030910	SK-N-SH	brain:	n/a	chr14:104030620-104030635 chr14:104030622-104030637
47	CTCF	chr14:104027820-104027970	SAEC	small airway:	n/a	n/a
48	CREB1	chr14:104027594-104028041	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr14:104027760-104027910	GM12873	blood:	n/a	n/a
50	POLR2A	chr14:104027621-104029923	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
3	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
4	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
5	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
6	chr14:104014533..104016298-chr14:104025800..104028102,2	K562	blood:
7	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:
8	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
9	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
10	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
11	chr14:104009722..104012574-chr14:104026131..104028003,2	K562	blood:
12	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:
13	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
14	chr14:104027610..104029440-chr14:104145265..104147418,2	MCF-7	breast:
15	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
16	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
17	chr14:103992298..103994293-chr14:104026567..104028145,2	K562	blood:
18	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:

Variant related genes	Relation type
KLC1	TF binding region
APOPT1	TF binding region
ENSG00000256500	TF binding region
ENSG00000269963	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000258851	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	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
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers 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	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv976818	chr14:104023424-104029394	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv827069	chr14:104027502-104028019	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv827070	chr14:104027510-104028019	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 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	chr14:104026800-104028000	Enhancers	Spleen	Spleen
2	chr14:104027000-104028000	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:104027000-104028400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr14:104027000-104028400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:104027000-104028400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr14:104027000-104028600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr14:104027200-104028000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:104027200-104028000	Weak transcription	Aorta	Aorta
9	chr14:104027200-104028000	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr14:104027200-104028000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr14:104027200-104028200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:104027200-104028200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:104027200-104028200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr14:104027200-104028200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:104027200-104028200	Flanking Active TSS	HUVEC	blood vessel
16	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr14:104027200-104028400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr14:104027200-104028400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:104027200-104028400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:104027200-104028400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr14:104027200-104028400	Flanking Active TSS	Fetal Brain Female	brain
22	chr14:104027200-104028400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr14:104027200-104028400	Flanking Active TSS	Dnd41	blood
24	chr14:104027200-104028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:104027200-104028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr14:104027400-104028000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:104027400-104028000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:104027400-104028000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr14:104027400-104028000	Flanking Active TSS	Fetal Lung	lung
30	chr14:104027400-104028000	Flanking Active TSS	Psoas Muscle	Psoas
31	chr14:104027400-104028000	Flanking Active TSS	NHEK	skin
32	chr14:104027400-104028200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:104027400-104028200	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr14:104027400-104028200	Flanking Active TSS	Fetal Heart	heart
35	chr14:104027400-104028200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr14:104027400-104028200	Flanking Active TSS	K562	blood
37	chr14:104027400-104028200	Flanking Active TSS	NH-A	brain
38	chr14:104027400-104028400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:104027400-104028400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr14:104027400-104028400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr14:104027400-104028400	Flanking Active TSS	Osteobl	bone
42	chr14:104027400-104028600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:104027600-104028000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:104027600-104028000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:104027600-104028000	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr14:104027600-104028000	Flanking Active TSS	Right Ventricle	heart
50	chr14:104027600-104028000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon

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