Variant report

Variant	rs549695258
Chromosome Location	chr14:104314960-104314961
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	POLR2A	chr14:104314906-104315170	MCF-7	breast:	n/a	n/a
4	NR2F2	chr14:104313641-104315485	MCF-7	breast:	n/a	n/a
5	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
6	ZEB1	chr14:104313842-104315405	HepG2	liver:	n/a	n/a
7	UBTF	chr14:104314835-104315125	K562	blood:	n/a	n/a
8	POLR2A	chr14:104314823-104315248	MCF-7	breast:	n/a	n/a
9	MYC	chr14:104314959-104315120	HepG2	liver:	n/a	n/a
10	CTBP2	chr14:104314098-104315008	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr14:104314022-104315379	HEK293-T-REx	kidney:	n/a	chr14:104315063-104315072
12	NR2F2	chr14:104313546-104315385	HepG2	liver:	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	REST	chr14:104312509-104315008	H1-neurons	neurons:	n/a	chr14:104314017-104314030 chr14:104313951-104313964 chr14:104314832-104314845 chr14:104313836-104313845 chr14:104314605-104314618
15	UBTF	chr14:104314603-104315098	K562	blood:	n/a	n/a
16	HDAC2	chr14:104314930-104315329	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:104314850-104315053	HepG2	liver:	n/a	n/a
18	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
19	MAX	chr14:104313517-104315532	HepG2	liver:	n/a	chr14:104314387-104314397
20	MAZ	chr14:104312780-104315206	IMR90	lung:	n/a	chr14:104314387-104314397
21	ZBTB7A	chr14:104314223-104315016	ECC-1	luminal epithelium:	n/a	chr14:104314808-104314816 chr14:104314402-104314410 chr14:104314401-104314409
22	RFX5	chr14:104314744-104315044	HepG2	liver:	n/a	n/a
23	MAZ	chr14:104313807-104315119	HepG2	liver:	n/a	chr14:104314387-104314397
24	MXI1	chr14:104313573-104315413	HepG2	liver:	n/a	n/a
25	HDAC2	chr14:104313768-104315446	MCF-7	breast:	n/a	chr14:104314434-104314443
26	POLR2A	chr14:104314846-104315240	HepG2	liver:	n/a	n/a

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
ENSG00000100711	Chromatin interaction
ENSG00000258534	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000156411	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	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	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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:97 , 50 per page) page: 1 2

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	chr14:104312600-104315200	Active TSS	Ovary	ovary
5	chr14:104312800-104315200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:104312800-104315200	Active TSS	Brain Anterior Caudate	brain
7	chr14:104313000-104315200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:104313000-104315200	Active TSS	Hela-S3	cervix
9	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
10	chr14:104313200-104315000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:104313200-104315000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:104313200-104315000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:104313200-104315000	Active TSS	Brain Substantia Nigra	brain
14	chr14:104313200-104315200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:104313200-104315200	Active TSS	Brain Angular Gyrus	brain
16	chr14:104313200-104315200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr14:104313200-104315400	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:104313400-104315000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:104313400-104315000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:104313400-104315000	Active TSS	HepG2	liver
21	chr14:104313400-104315000	Active TSS	Osteobl	bone
22	chr14:104313600-104315200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:104314000-104315000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:104314000-104315000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:104314000-104315200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:104314000-104315400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:104314000-104315600	Enhancers	Fetal Lung	lung
28	chr14:104314200-104315000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:104314200-104315200	Flanking Active TSS	Right Ventricle	heart
30	chr14:104314200-104315400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr14:104314400-104315000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:104314400-104315000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr14:104314400-104315000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:104314400-104315000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr14:104314400-104315200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:104314400-104315200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:104314400-104315200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr14:104314400-104315200	Flanking Active TSS	Colonic Mucosa	Colon
39	chr14:104314400-104315200	Flanking Active TSS	Placenta	Placenta
40	chr14:104314400-104315200	Flanking Active TSS	Gastric	stomach
41	chr14:104314400-104315200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:104314400-104315400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:104314400-104315800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr14:104314600-104315000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr14:104314600-104315000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:104314600-104315000	Enhancers	Primary B cells from cord blood	blood
47	chr14:104314600-104315000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:104314600-104315000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:104314600-104315000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:104314600-104315000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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