Variant report

Variant	rs73417214
Chromosome Location	chr11:17295585-17295586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17295301-17295739	HL-60	blood:	n/a	n/a
2	MAFK	chr11:17295515-17295715	K562	blood:	n/a	n/a
3	MAX	chr11:17295511-17295773	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr11:17295427-17295649	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:17295566-17295826	K562	blood:	n/a	n/a
6	USF1	chr11:17295409-17295690	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr11:17295378-17295671	K562	blood:	n/a	n/a
8	YY1	chr11:17295366-17295758	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr11:17295427-17295639	K562	blood:	n/a	n/a
10	MXI1	chr11:17295556-17295809	HepG2	liver:	n/a	n/a
11	YY1	chr11:17295352-17295951	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr11:17295385-17295781	K562	blood:	n/a	n/a
13	BHLHE40	chr11:17295569-17295756	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17290835..17293391-chr11:17295443..17297735,3	K562	blood:
2	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:

No data

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73417208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17286000-17297200	Weak transcription	A549	lung
2	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:17293800-17297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:17294000-17297000	Enhancers	Dnd41	blood
5	chr11:17294200-17297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:17294200-17297400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17294200-17297600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:17294400-17295800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:17294400-17295800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:17294400-17295800	Enhancers	Esophagus	oesophagus
11	chr11:17294400-17297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:17294400-17297400	Enhancers	Fetal Thymus	thymus
13	chr11:17294400-17297600	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:17294600-17297400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:17294600-17297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:17294600-17297600	Weak transcription	Aorta	Aorta
17	chr11:17294600-17297600	Weak transcription	HMEC	breast
18	chr11:17294800-17295600	Enhancers	Hela-S3	cervix
19	chr11:17294800-17295600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:17294800-17297000	Weak transcription	Fetal Kidney	kidney
21	chr11:17294800-17297400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:17294800-17297600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:17295000-17295600	Weak transcription	Thymus	Thymus
24	chr11:17295000-17297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:17295000-17297400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17295000-17297400	Weak transcription	NHEK	skin
27	chr11:17295000-17297600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:17295000-17297600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:17295200-17295600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:17295200-17295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:17295200-17297000	Enhancers	HepG2	liver
32	chr11:17295400-17295600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:17295400-17295600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:17295400-17295600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr11:17295400-17295600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:17295400-17297000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:17295400-17297400	Enhancers	K562	blood
38	chr11:17295400-17297600	Enhancers	Placenta	Placenta

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