Variant report

Variant	rs372936264
Chromosome Location	chr14:104314786-104314787
allele	A/C
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	MAX	chr14:104314259-104315319	MCF-7	breast:	n/a	chr14:104314387-104314397
2	MAX	chr14:104313794-104315443	MCF-7	breast:	n/a	chr14:104314387-104314397
3	ZEB1	chr14:104313840-104314826	GM12878	blood:	n/a	n/a
4	EGR1	chr14:104313824-104314821	MCF-7	breast:	n/a	chr14:104314082-104314091 chr14:104314014-104314024 chr14:104314012-104314026 chr14:104314011-104314024 chr14:104314580-104314590 chr14:104314011-104314024 chr14:104314011-104314025 chr14:104314579-104314589 chr14:104314010-104314025 chr14:104314711-104314721 chr14:104314011-104314024 chr14:104314104-104314117 chr14:104313916-104313926 chr14:104313951-104313961 chr14:104314103-104314113 chr14:104314517-104314527 chr14:104313953-104313966 chr14:104314011-104314024 chr14:104314014-104314023 chr14:104314013-104314023 chr14:104314711-104314724
5	NR2F2	chr14:104313641-104315485	MCF-7	breast:	n/a	n/a
6	SIN3A	chr14:104312733-104315025	H1-hESC	embryonic stem cell:	n/a	chr14:104314868-104314881 chr14:104314632-104314641 chr14:104314875-104314888 chr14:104314747-104314760 chr14:104314832-104314845
7	ZEB1	chr14:104313842-104315405	HepG2	liver:	n/a	n/a
8	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr14:104314022-104315379	HEK293-T-REx	kidney:	n/a	chr14:104315063-104315072
10	NR2F2	chr14:104313546-104315385	HepG2	liver:	n/a	n/a
11	MAX	chr14:104313870-104314890	HepG2	liver:	n/a	chr14:104314387-104314397
12	POLR2A	chr14:104313696-104314826	HCT-116	colon:	n/a	n/a
13	ZBTB7A	chr14:104314123-104314974	ECC-1	luminal epithelium:	n/a	chr14:104314808-104314816 chr14:104314402-104314410 chr14:104314401-104314409
14	E2F6	chr14:104314351-104314865	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
15	TAF1	chr14:104313448-104314837	HepG2	liver:	n/a	n/a
16	TCF3	chr14:104313673-104314821	GM12878	blood:	n/a	chr14:104314472-104314482 chr14:104314601-104314615 chr14:104314582-104314596
17	RCOR1	chr14:104314560-104314933	HepG2	liver:	n/a	n/a
18	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
19	UBTF	chr14:104314603-104315098	K562	blood:	n/a	n/a
20	ZBTB7A	chr14:104314557-104314855	HepG2	liver:	n/a	chr14:104314808-104314816
21	E2F6	chr14:104314355-104314810	H1-hESC	embryonic stem cell:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
22	MAX	chr14:104313852-104314809	H1-hESC	embryonic stem cell:	n/a	chr14:104314387-104314397
23	MAZ	chr14:104313345-104314884	GM12878	blood:	n/a	chr14:104314387-104314397
24	E2F6	chr14:104314292-104314790	A549	lung:	n/a	chr14:104314517-104314526 chr14:104314562-104314573
25	ELF1	chr14:104313460-104315153	MCF-7	breast:	n/a	chr14:104313861-104313870 chr14:104313858-104313867 chr14:104313854-104313866 chr14:104314101-104314113 chr14:104313857-104313869 chr14:104314100-104314109
26	MAX	chr14:104313517-104315532	HepG2	liver:	n/a	chr14:104314387-104314397
27	HMGN3	chr14:104313927-104314863	K562	blood:	n/a	n/a
28	MAZ	chr14:104312780-104315206	IMR90	lung:	n/a	chr14:104314387-104314397
29	ZBTB7A	chr14:104314223-104315016	ECC-1	luminal epithelium:	n/a	chr14:104314808-104314816 chr14:104314402-104314410 chr14:104314401-104314409
30	RFX5	chr14:104314744-104315044	HepG2	liver:	n/a	n/a
31	MAZ	chr14:104313807-104315119	HepG2	liver:	n/a	chr14:104314387-104314397
32	MXI1	chr14:104313573-104315413	HepG2	liver:	n/a	n/a
33	SMARCB1	chr14:104314021-104314885	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr14:104313768-104315446	MCF-7	breast:	n/a	chr14:104314434-104314443

No.	Distal block	Cell Line	Cell type
1	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
2	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000156411	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000258534	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
3	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
4	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
5	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
6	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
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1817657	chr14:104311251-104314960	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv20166	chr14:104312355-104315015	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv3326779	chr14:104312699-104314972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv3407760	chr14:104312824-104315372	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	esv1810532	chr14:104313426-104314796	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv566024	chr14:104313426-104314796	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv1791803	chr14:104313426-104314960	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	esv1792127	chr14:104313426-104314960	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv1796653	chr14:104313426-104314960	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	esv1812503	chr14:104313426-104314960	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	esv1837676	chr14:104313426-104314960	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv566025	chr14:104313426-104314960	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv566027	chr14:104313583-104314960	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	esv1845185	chr14:104313750-104314796	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv1799442	chr14:104313750-104314960	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	esv1800561	chr14:104313750-104314960	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	esv1835150	chr14:104313750-104314960	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	nsv566028	chr14:104314023-104332759	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:104312400-104315000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:104312400-104315000	Active TSS	Psoas Muscle	Psoas
4	chr14:104312600-104314800	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr14:104312600-104315200	Active TSS	Ovary	ovary
6	chr14:104312800-104314800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:104312800-104314800	Active TSS	Esophagus	oesophagus
8	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
10	chr14:104313000-104314800	Active TSS	Small Intestine	intestine
11	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
13	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
14	chr14:104313200-104314800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:104313200-104314800	Active TSS	Primary T cells from cord blood	blood
16	chr14:104313200-104314800	Active TSS	Colon Smooth Muscle	Colon
17	chr14:104313200-104315000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:104313200-104315000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:104313200-104315000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:104313200-104315000	Active TSS	Brain Substantia Nigra	brain
21	chr14:104313200-104315200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:104313200-104315200	Active TSS	Brain Angular Gyrus	brain
23	chr14:104313200-104315200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:104313200-104315400	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:104313400-104314800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:104313400-104314800	Active TSS	HSMM	muscle
27	chr14:104313400-104315000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:104313400-104315000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:104313400-104315000	Active TSS	HepG2	liver
30	chr14:104313400-104315000	Active TSS	Osteobl	bone
31	chr14:104313600-104315200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:104313800-104314800	Active TSS	K562	blood
33	chr14:104314000-104314800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr14:104314000-104315000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr14:104314000-104315000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr14:104314000-104315200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:104314000-104315400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:104314000-104315600	Enhancers	Fetal Lung	lung
39	chr14:104314200-104314800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:104314200-104314800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr14:104314200-104314800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:104314200-104314800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:104314200-104314800	Flanking Bivalent TSS/Enh	Thymus	Thymus
44	chr14:104314200-104315000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:104314200-104315200	Flanking Active TSS	Right Ventricle	heart
46	chr14:104314200-104315400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr14:104314400-104314800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:104314400-104314800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:104314400-104314800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:104314400-104314800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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