Variant report

Variant	rs144082795
Chromosome Location	chr7:56184164-56184165
allele	-/GG
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	chr7:56184153-56184203	PANC-1	pancreas:	n/a
2	chr7:56184153-56184203	ProgFib	skin:	n/a
3	chr7:56184153-56184203	AG09319	gingival:	n/a
4	chr7:56184153-56184203	Hepatocyte	liver:	n/a
5	chr7:56184153-56184203	AG04450	lung:	fetal
6	chr7:56184153-56184203	U87	brain:	n/a
7	chr7:56184153-56184203	HIPEpiC	eye:	n/a
8	chr7:56184153-56184203	NHBE	bronchial:	n/a
9	chr7:56184153-56184203	PrEC	prostate:	n/a
10	chr7:56184153-56184203	GM12878	blood:	n/a
11	chr7:56184153-56184203	H1-hESC	embryonic stem cell:	embryo
12	chr7:56184153-56184203	GM12891	blood:	n/a
13	chr7:56184153-56184203	BJ	skin:	n/a
14	chr7:56184153-56184203	SAEC	small airway:	n/a
15	chr7:56184153-56184203	HNPCEpiC	eye:	n/a
16	chr7:56184153-56184203	MCF10A-Er-Src	breast:	n/a
17	chr7:56184153-56184203	NB4	blood:	n/a
18	chr7:56184153-56184203	HCPEpiC	choroid plexus:	n/a
19	chr7:56184153-56184203	AG09309	skin:	n/a
20	chr7:56184153-56184203	SK-N-MC	brain:	n/a
21	chr7:56184153-56184203	MCF-7	breast:	n/a
22	chr7:56184153-56184203	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:56184153-56184203	HCM	heart:	n/a
24	chr7:56184153-56184203	AoSMC	blood vessel:	n/a
25	chr7:56184153-56184203	HCT-116	colon:	n/a
26	chr7:56184153-56184203	HEK293	kidney:	embryo
27	chr7:56184153-56184203	SK-N-SH	brain:	n/a
28	chr7:56184153-56184203	K562	blood:	n/a
29	chr7:56184153-56184203	HepG2	liver:	n/a
30	chr7:56184153-56184203	HCF	heart:	n/a
31	chr7:56184153-56184203	NH-A	brain:	n/a
32	chr7:56184153-56184203	HL-60	blood:	n/a
33	chr7:56184153-56184203	HMEC	breast:	n/a
34	chr7:56184153-56184203	Caco-2	colon:	n/a
35	chr7:56184153-56184203	PFSK-1	brain:	n/a
36	chr7:56184153-56184203	GM19239	blood:	n/a
37	chr7:56184153-56184203	HRE	kidney:	n/a
38	chr7:56184153-56184203	HRCEpiC	kidney:	n/a
39	chr7:56184153-56184203	GM06990	blood:	n/a
40	chr7:56184153-56184203	HRPEpiC	eye:	n/a
41	chr7:56184153-56184203	SK-N-SH_RA	brain:	n/a
42	chr7:56184153-56184203	SKMC	muscle:	n/a
43	chr7:56184153-56184203	AG10803	skin:	n/a
44	chr7:56184153-56184203	HEEpiC	esophagus:	n/a
45	chr7:56184153-56184203	ECC-1	luminal epithelium:	n/a
46	chr7:56184153-56184203	CMK	blood:	n/a
47	chr7:56184153-56184203	BE2_C	brain:	n/a
48	chr7:56184153-56184203	ovcar-3	ovarian:	n/a
49	chr7:56184153-56184203	IMR90	lung:	fetal
50	chr7:56184153-56184203	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
NUPR1L	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56183400-56184200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:56183400-56184400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:56183600-56184200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
4	chr7:56183600-56184200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:56183600-56184200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:56183600-56184200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:56183600-56184200	Active TSS	Aorta	Aorta
8	chr7:56183600-56184200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
9	chr7:56183600-56184200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr7:56183600-56184200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr7:56183600-56184200	Bivalent Enhancer	Left Ventricle	heart
12	chr7:56183600-56184200	Flanking Active TSS	Pancreas	Pancrea
13	chr7:56183600-56184200	Bivalent/Poised TSS	Thymus	Thymus
14	chr7:56183600-56184200	Bivalent/Poised TSS	NHEK	skin
15	chr7:56183600-56184400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:56183600-56184400	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:56183600-56184400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr7:56183600-56184400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr7:56183600-56184600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:56183600-56184600	Active TSS	Hela-S3	cervix
21	chr7:56183800-56184200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr7:56183800-56184200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr7:56183800-56184200	Active TSS	Colonic Mucosa	Colon
24	chr7:56183800-56184200	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr7:56183800-56184200	Active TSS	Fetal Kidney	kidney
26	chr7:56183800-56184200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr7:56183800-56184200	Bivalent/Poised TSS	Placenta	Placenta
28	chr7:56183800-56184200	Enhancers	Lung	lung
29	chr7:56183800-56184400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:56183800-56184400	Active TSS	Brain Angular Gyrus	brain
31	chr7:56183800-56184400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr7:56184000-56184200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr7:56184000-56184200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:56184000-56184200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:56184000-56184200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:56184000-56184200	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr7:56184000-56184200	Bivalent Enhancer	Liver	Liver
38	chr7:56184000-56184200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr7:56184000-56184200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr7:56184000-56184200	Enhancers	Psoas Muscle	Psoas
41	chr7:56184000-56184200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
42	chr7:56184000-56184200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
43	chr7:56184000-56184200	Enhancers	HMEC	breast
44	chr7:56184000-56184400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:56184000-56184400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr7:56184000-56184400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:56184000-56184600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links