Variant report

Variant	rs933466
Chromosome Location	chr7:56184241-56184242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56184217-56184267	BJ	skin:	n/a
2	chr7:56184217-56184267	MCF-7	breast:	n/a
3	chr7:56184217-56184267	HL-60	blood:	n/a
4	chr7:56184217-56184267	HEEpiC	esophagus:	n/a
5	chr7:56184217-56184267	GM12878	blood:	n/a
6	chr7:56184217-56184267	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:56184217-56184267	AG09309	skin:	n/a
8	chr7:56184217-56184267	A549	lung:	n/a
9	chr7:56184217-56184267	GM06990	blood:	n/a
10	chr7:56184217-56184267	Jurkat	blood:	n/a
11	chr7:56184217-56184267	AG09319	gingival:	n/a
12	chr7:56184217-56184267	NHDF-neo	bronchial:	n/a
13	chr7:56184217-56184267	HMEC	breast:	n/a
14	chr7:56184217-56184267	ProgFib	skin:	n/a
15	chr7:56184217-56184267	HIPEpiC	eye:	n/a
16	chr7:56184217-56184267	HRCEpiC	kidney:	n/a
17	chr7:56184217-56184267	AG04450	lung:	fetal
18	chr7:56184217-56184267	AG04449	skin:	fetal
19	chr7:56184217-56184267	BE2_C	brain:	n/a
20	chr7:56184217-56184267	AoSMC	blood vessel:	n/a
21	chr7:56184217-56184267	LNCaP	prostate:	n/a
22	chr7:56184217-56184267	PrEC	prostate:	n/a
23	chr7:56184217-56184267	HNPCEpiC	eye:	n/a
24	chr7:56184217-56184267	HCPEpiC	choroid plexus:	n/a
25	chr7:56184217-56184267	HAEpiC	amniotic membrane:	n/a
26	chr7:56184217-56184267	GM12892	blood:	n/a
27	chr7:56184217-56184267	K562	blood:	n/a
28	chr7:56184217-56184267	Hepatocyte	liver:	n/a
29	chr7:56184217-56184267	PFSK-1	brain:	n/a
30	chr7:56184217-56184267	SAEC	small airway:	n/a
31	chr7:56184217-56184267	CMK	blood:	n/a
32	chr7:56184217-56184267	SK-N-SH_RA	brain:	n/a
33	chr7:56184217-56184267	HRE	kidney:	n/a
34	chr7:56184217-56184267	ECC-1	luminal epithelium:	n/a
35	chr7:56184217-56184267	NHBE	bronchial:	n/a
36	chr7:56184217-56184267	MCF10A-Er-Src	breast:	n/a
37	chr7:56184217-56184267	HepG2	liver:	n/a
38	chr7:56184217-56184267	NH-A	brain:	n/a
39	chr7:56184217-56184267	HCF	heart:	n/a
40	chr7:56184217-56184267	Caco-2	colon:	n/a
41	chr7:56184217-56184267	SKMC	muscle:	n/a
42	chr7:56184217-56184267	U87	brain:	n/a
43	chr7:56184217-56184267	Hela-S3	cervix:	n/a
44	chr7:56184217-56184267	PANC-1	pancreas:	n/a
45	chr7:56184217-56184267	SK-N-SH	brain:	n/a
46	chr7:56184217-56184267	ovcar-3	ovarian:	n/a
47	chr7:56184217-56184267	GM12891	blood:	n/a
48	chr7:56184217-56184267	HCT-116	colon:	n/a
49	chr7:56184217-56184267	HUVEC	blood vessel:	n/a
50	chr7:56184217-56184267	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
NUPR1L	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10258800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238394	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs11773374	0.84[AMR][1000 genomes]
rs11773453	0.81[AMR][1000 genomes]
rs12537943	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13234899	0.83[AMR][1000 genomes]
rs13242830	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13244654	0.88[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1894832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002651	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2016482	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2016724	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2242508	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs2331180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2538047	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2908543	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2908544	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2908545	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2908550	0.86[AMR][1000 genomes]
rs4947536	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4948106	0.85[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs6945795	0.83[AMR][1000 genomes]
rs73128341	0.82[ASN][1000 genomes]
rs7782243	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7783339	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs7799471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801169	0.81[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs816408	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs816409	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs816411	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs816414	0.83[ASN][1000 genomes]
rs816417	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs860118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs861638	0.83[ASN][1000 genomes]
rs864186	0.85[ASN][1000 genomes]
rs9767946	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
5	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv970840	chr7:56183660-56185640	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv970839	chr7:56183660-56196274	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56183400-56184400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:56183600-56184400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56183600-56184400	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:56183600-56184400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr7:56183600-56184400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr7:56183600-56184600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:56183600-56184600	Active TSS	Hela-S3	cervix
8	chr7:56183800-56184400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:56183800-56184400	Active TSS	Brain Angular Gyrus	brain
10	chr7:56183800-56184400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr7:56184000-56184400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:56184000-56184400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr7:56184000-56184400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:56184000-56184600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:56184200-56184400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:56184200-56184400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:56184200-56184400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:56184200-56184400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:56184200-56184400	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr7:56184200-56184400	Enhancers	Pancreas	Pancrea
21	chr7:56184200-56184400	Bivalent/Poised TSS	Stomach Mucosa	stomach
22	chr7:56184200-56184600	Active TSS	Brain Anterior Caudate	brain
23	chr7:56184200-56184600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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