Variant report

Variant	rs568971210
Chromosome Location	chr14:37130831-37130832
allele	C/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	MAZ	chr14:37130795-37131569	Hela-S3	cervix:	n/a	chr14:37131303-37131313
2	JUND	chr14:37130784-37131243	H1-hESC	embryonic stem cell:	n/a	chr14:37130896-37130906 chr14:37130896-37130906
3	SP2	chr14:37130819-37131176	H1-hESC	embryonic stem cell:	n/a	chr14:37131006-37131015 chr14:37131003-37131018
4	ELF1	chr14:37130578-37131568	MCF-7	breast:	n/a	n/a
5	STAT3	chr14:37130779-37131438	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
6	MAFK	chr14:37130692-37130969	HepG2	liver:	n/a	chr14:37130818-37130829 chr14:37130809-37130829 chr14:37130818-37130829 chr14:37130814-37130829 chr14:37130811-37130827
7	MAX	chr14:37130534-37131190	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
9	SP1	chr14:37130700-37131466	HCT-116	colon:	n/a	chr14:37131009-37131016 chr14:37131003-37131015 chr14:37131003-37131015 chr14:37131004-37131013
10	GTF2F1	chr14:37130750-37131765	Hela-S3	cervix:	n/a	n/a
11	PBX3	chr14:37130735-37131333	A549	lung:	n/a	n/a
12	BHLHE40	chr14:37130670-37131038	K562	blood:	n/a	n/a
13	HCFC1	chr14:37130816-37131291	K562	blood:	n/a	n/a
14	RFX5	chr14:37130784-37131313	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr14:37130531-37130895	H1-hESC	embryonic stem cell:	n/a	chr14:37130633-37130646
16	MAX	chr14:37130753-37131982	K562	blood:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
17	MAX	chr14:37130815-37131679	ECC-1	luminal epithelium:	n/a	chr14:37131303-37131313
18	NFYB	chr14:37130545-37131234	K562	blood:	n/a	chr14:37130971-37130986
19	POLR2A	chr14:37130777-37131321	HCT-116	colon:	n/a	n/a
20	SP1	chr14:37130784-37131188	HepG2	liver:	n/a	chr14:37131009-37131016 chr14:37131003-37131015 chr14:37131003-37131015 chr14:37131004-37131013
21	MAFK	chr14:37130661-37130992	HepG2	liver:	n/a	chr14:37130818-37130829 chr14:37130809-37130829 chr14:37130818-37130829 chr14:37130814-37130829 chr14:37130811-37130827
22	POLR2A	chr14:37130734-37131750	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
24	SRF	chr14:37130592-37131840	MCF-7	breast:	n/a	chr14:37131007-37131025
25	NFYA	chr14:37130816-37131178	Hela-S3	cervix:	n/a	chr14:37130974-37130992
26	MAFK	chr14:37130759-37131241	K562	blood:	n/a	chr14:37130818-37130829 chr14:37130809-37130829 chr14:37130818-37130829 chr14:37130814-37130829 chr14:37130811-37130827
27	GABPA	chr14:37130655-37131431	MCF-7	breast:	n/a	n/a
28	TBP	chr14:37130737-37131612	K562	blood:	n/a	n/a
29	PBX3	chr14:37130678-37131299	SK-N-SH	brain:	n/a	n/a
30	RCOR1	chr14:37130802-37131531	K562	blood:	n/a	n/a
31	MAX	chr14:37130724-37132399	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
32	MAX	chr14:37130611-37132437	MCF-7	breast:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
33	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
34	ZNF143	chr14:37130792-37131285	K562	blood:	n/a	n/a
35	STAT3	chr14:37130732-37131405	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
36	KAP1	chr14:37130711-37131287	U2OS	brain:	n/a	n/a
37	TCF7L2	chr14:37130455-37131262	Hela-S3	cervix:	n/a	n/a
38	MAX	chr14:37130794-37131966	K562	blood:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
39	MYC	chr14:37130815-37131217	MCF10A-Er-Src	breast:	n/a	n/a
40	PBX3	chr14:37130676-37131338	SK-N-SH	brain:	n/a	n/a
41	SP4	chr14:37130649-37131212	H1-hESC	embryonic stem cell:	n/a	chr14:37131003-37131019 chr14:37131001-37131017
42	GABPA	chr14:37130689-37131561	MCF-7	breast:	n/a	n/a
43	SUZ12	chr14:37129605-37130846	H1-hESC	embryonic stem cell:	n/a	n/a
44	STAT3	chr14:37130767-37131173	MCF10A-Er-Src	breast:	n/a	chr14:37130862-37130870 chr14:37131128-37131135
45	POLR2A	chr14:37130800-37132493	MCF10A-Er-Src	breast:	n/a	n/a
46	MAZ	chr14:37130556-37131689	K562	blood:	n/a	chr14:37131303-37131313
47	GABPA	chr14:37130717-37131252	K562	blood:	n/a	n/a
48	MAFF	chr14:37130685-37130988	HepG2	liver:	n/a	chr14:37130813-37130831 chr14:37130812-37130826
49	PBX3	chr14:37130750-37131278	A549	lung:	n/a	n/a
50	CREB1	chr14:37130766-37131180	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:
2	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
3	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
4	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

Variant related genes	Relation type
PAX9	TF binding region
ENSG00000258661	TF binding region
ENSG00000258661	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
3	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
4	chr14:37130200-37131000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr14:37130200-37131000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
8	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:37130400-37131000	Bivalent Enhancer	Placenta	Placenta
11	chr14:37130400-37131000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
12	chr14:37130400-37131200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
13	chr14:37130400-37131800	Active TSS	K562	blood
14	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:37130400-37132400	Active TSS	A549	lung
16	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
18	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:37130600-37131000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:37130600-37131000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
24	chr14:37130600-37131000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:37130600-37131000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr14:37130600-37131000	Bivalent/Poised TSS	Fetal Kidney	kidney
27	chr14:37130600-37131000	Active TSS	Gastric	stomach
28	chr14:37130600-37131000	Flanking Bivalent TSS/Enh	Osteobl	bone
29	chr14:37130600-37131200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:37130600-37131200	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr14:37130600-37131200	Flanking Active TSS	Right Atrium	heart
33	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr14:37130600-37131200	Flanking Bivalent TSS/Enh	NH-A	brain
36	chr14:37130600-37131400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:37130600-37131400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr14:37130600-37131600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:37130600-37131600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:37130600-37131600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:37130600-37131600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr14:37130600-37131600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:37130600-37131600	Active TSS	Pancreas	Pancrea
46	chr14:37130600-37131600	Bivalent/Poised TSS	HMEC	breast
47	chr14:37130600-37131600	Bivalent/Poised TSS	NHEK	skin
48	chr14:37130600-37131800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr14:37130600-37131800	Bivalent/Poised TSS	Psoas Muscle	Psoas
50	chr14:37130600-37132000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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