Variant report

Variant	rs28730331
Chromosome Location	chr14:105889343-105889344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105889219-105889528	HepG2	liver:	n/a	n/a
2	GATA3	chr14:105888740-105889577	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr14:105888715-105889677	MCF-7	breast:	n/a	n/a
4	NR2F2	chr14:105888760-105889565	MCF-7	breast:	n/a	n/a
5	EP300	chr14:105889169-105889608	SK-N-SH_RA	brain:	n/a	chr14:105889496-105889510
6	POLR2A	chr14:105886708-105889552	SK-N-MC	brain:	n/a	n/a
7	EP300	chr14:105888557-105889984	SK-N-SH	brain:	n/a	chr14:105889496-105889510
8	POLR2A	chr14:105888979-105889345	K562	blood:	n/a	n/a
9	GATA2	chr14:105888569-105889619	SH-SY5Y	brain:	n/a	chr14:105888993-105889007
10	POLR2A	chr14:105889113-105889443	K562	blood:	n/a	n/a
11	TCF7L2	chr14:105889135-105889595	MCF-7	breast:	n/a	n/a
12	POLR2A	chr14:105889296-105889464	Hela-S3	cervix:	n/a	n/a
13	EP300	chr14:105889209-105889530	SK-N-SH_RA	brain:	n/a	chr14:105889496-105889510
14	MXI1	chr14:105886614-105890279	SK-N-SH	brain:	n/a	n/a
15	REST	chr14:105889130-105889471	SK-N-SH	brain:	n/a	n/a
16	YY1	chr14:105889266-105889506	SK-N-SH_RA	brain:	n/a	n/a
17	NR2F2	chr14:105888933-105889610	MCF-7	breast:	n/a	n/a
18	GATA3	chr14:105888819-105889536	SK-N-SH	brain:	n/a	n/a
19	SRF	chr14:105888764-105889576	MCF-7	breast:	n/a	n/a
20	ZNF217	chr14:105889022-105889417	MCF-7	breast:	n/a	n/a
21	GATA3	chr14:105888974-105889440	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:105889003-105889409	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105863063..105865456-chr14:105887763..105889442,3	K562	blood:
2	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
3	chr14:105863063..105864847-chr14:105886913..105889442,2	K562	blood:
4	chr14:105779766..105781662-chr14:105888311..105890872,2	MCF-7	breast:
5	chr14:105886107..105887818-chr14:105887974..105889607,2	MCF-7	breast:
6	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
7	chr14:105888342..105894950-chr14:105900669..105908153,8	MCF-7	breast:
8	chr14:105887282..105889637-chr14:105895992..105898524,2	MCF-7	breast:
9	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
10	chr14:105887761..105889537-chr14:105933302..105935322,2	MCF-7	breast:
11	chr14:105887107..105890164-chr14:105897774..105900596,4	MCF-7	breast:
12	chr14:105888512..105890241-chr14:105919269..105920969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251602	TF binding region
ENSG00000226174	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10151352	0.85[AMR][1000 genomes]
rs4983620	0.83[AMR][1000 genomes]
rs7144639	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7492796	0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 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	chr14:105886600-105889400	Enhancers	Fetal Brain Male	brain
2	chr14:105886800-105889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:105887000-105889400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:105887200-105897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:105887400-105889400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:105887400-105889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:105887400-105889400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:105887400-105889400	Enhancers	Fetal Heart	heart
9	chr14:105887400-105889400	Enhancers	Fetal Lung	lung
10	chr14:105887400-105889400	Enhancers	Placenta	Placenta
11	chr14:105887400-105889400	Enhancers	Spleen	Spleen
12	chr14:105887400-105892400	Weak transcription	Aorta	Aorta
13	chr14:105887600-105889400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:105887600-105889600	Enhancers	Left Ventricle	heart
15	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:105887800-105889400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:105887800-105889800	Enhancers	Ovary	ovary
18	chr14:105887800-105890200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:105887800-105896600	Weak transcription	HSMMtube	muscle
20	chr14:105888000-105889400	Enhancers	Adipose Nuclei	Adipose
21	chr14:105888000-105889400	Enhancers	Brain Angular Gyrus	brain
22	chr14:105888000-105889400	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:105888000-105889400	Enhancers	Brain Hippocampus Middle	brain
24	chr14:105888000-105889400	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr14:105888000-105889600	Strong transcription	Fetal Intestine Small	intestine
26	chr14:105888000-105889800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr14:105888000-105896800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:105888200-105889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:105888200-105889400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:105888200-105889400	Enhancers	Brain Anterior Caudate	brain
31	chr14:105888200-105889400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:105888200-105889400	Genic enhancers	Fetal Stomach	stomach
33	chr14:105888200-105889400	Enhancers	HepG2	liver
34	chr14:105888200-105889400	Enhancers	K562	blood
35	chr14:105888200-105891000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:105888200-105891200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:105888200-105891400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:105888200-105892600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:105888200-105892800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105888200-105896400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:105888200-105896400	Weak transcription	NHDF-Ad	bronchial
42	chr14:105888200-105900400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:105888400-105889400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105888400-105890200	Weak transcription	NHEK	skin
45	chr14:105888400-105890400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:105888400-105891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:105888400-105891200	Weak transcription	NHLF	lung
48	chr14:105888400-105891800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:105888400-105892600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:105888400-105893000	Weak transcription	HSMM	muscle

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