Variant report

Variant	rs146448956
Chromosome Location	chr12:49687716-49687717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr12:49686994-49689288	U2OS	brain:	n/a	chr12:49687857-49687865
2	KAP1	chr12:49686318-49689281	HEK293	kidney:	n/a	chr12:49687857-49687865

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49687715-49687765	BE2_C	brain:	n/a
2	chr12:49687715-49687765	HRCEpiC	kidney:	n/a
3	chr12:49687715-49687765	SKMC	muscle:	n/a
4	chr12:49687715-49687765	HMEC	breast:	n/a
5	chr12:49687715-49687765	NH-A	brain:	n/a
6	chr12:49687715-49687765	RPTEC	kidney:	n/a
7	chr12:49687715-49687765	PFSK-1	brain:	n/a
8	chr12:49687715-49687765	BJ	skin:	n/a
9	chr12:49687715-49687765	HepG2	liver:	n/a
10	chr12:49687715-49687765	HUVEC	blood vessel:	n/a
11	chr12:49687715-49687765	GM12892	blood:	n/a
12	chr12:49687715-49687765	HCF	heart:	n/a
13	chr12:49687715-49687765	Hepatocyte	liver:	n/a
14	chr12:49687715-49687765	HL-60	blood:	n/a
15	chr12:49687715-49687765	HEEpiC	esophagus:	n/a
16	chr12:49687715-49687765	LNCaP	prostate:	n/a
17	chr12:49687715-49687765	Hela-S3	cervix:	n/a
18	chr12:49687715-49687765	SK-N-SH_RA	brain:	n/a
19	chr12:49687715-49687765	ovcar-3	ovarian:	n/a
20	chr12:49687715-49687765	NB4	blood:	n/a
21	chr12:49687715-49687765	HEK293	kidney:	embryo
22	chr12:49687715-49687765	AG04450	lung:	fetal
23	chr12:49687715-49687765	ProgFib	skin:	n/a
24	chr12:49687715-49687765	GM06990	blood:	n/a
25	chr12:49687715-49687765	AG09309	skin:	n/a
26	chr12:49687715-49687765	NT2-D1	testis:	n/a
27	chr12:49687715-49687765	HNPCEpiC	eye:	n/a
28	chr12:49687715-49687765	PrEC	prostate:	n/a
29	chr12:49687715-49687765	Jurkat	blood:	n/a
30	chr12:49687715-49687765	U87	brain:	n/a
31	chr12:49687715-49687765	HAEpiC	amniotic membrane:	n/a
32	chr12:49687715-49687765	GM19239	blood:	n/a
33	chr12:49687715-49687765	HCM	heart:	n/a
34	chr12:49687715-49687765	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:49687715-49687765	MCF-7	breast:	n/a
36	chr12:49687715-49687765	CMK	blood:	n/a
37	chr12:49687715-49687765	A549	lung:	n/a
38	chr12:49687715-49687765	H1-hESC	embryonic stem cell:	embryo
39	chr12:49687715-49687765	GM12891	blood:	n/a
40	chr12:49687715-49687765	HCPEpiC	choroid plexus:	n/a
41	chr12:49687715-49687765	SAEC	small airway:	n/a
42	chr12:49687715-49687765	HCT-116	colon:	n/a
43	chr12:49687715-49687765	MCF10A-Er-Src	breast:	n/a
44	chr12:49687715-49687765	AG04449	skin:	fetal
45	chr12:49687715-49687765	HIPEpiC	eye:	n/a
46	chr12:49687715-49687765	NHBE	bronchial:	n/a
47	chr12:49687715-49687765	K562	blood:	n/a
48	chr12:49687715-49687765	AoSMC	blood vessel:	n/a
49	chr12:49687715-49687765	ECC-1	luminal epithelium:	n/a
50	chr12:49687715-49687765	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
2	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
3	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
4	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
5	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
6	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
7	chr12:49687485..49689033-chr12:49958204..49960498,2	K562	blood:
8	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
9	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
10	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
11	chr12:49665854..49668915-chr12:49685671..49689413,3	MCF-7	breast:
12	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRPH-1	chr12:49687507-49687780	NONHSAT028100

No data

Variant related genes	Relation type
PRPH	TF binding region
PRPH	CpG island
ENSG00000135406	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000258334	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000258232	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	esv19135	chr12:49676002-49690399	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv558834	chr12:49676010-49691567	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv826367	chr12:49686493-49691709	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49686200-49687800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:49686200-49687800	Enhancers	K562	blood
3	chr12:49686400-49687800	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:49686400-49688000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:49686400-49688800	Enhancers	A549	lung
6	chr12:49686600-49687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:49686600-49688800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:49686600-49689800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr12:49686600-49692000	Bivalent Enhancer	Placenta	Placenta
10	chr12:49686800-49688600	Enhancers	Right Ventricle	heart
11	chr12:49686800-49689000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr12:49686800-49689400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:49687000-49687800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr12:49687000-49687800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:49687000-49687800	Enhancers	Brain Hippocampus Middle	brain
16	chr12:49687000-49687800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:49687000-49687800	Bivalent Enhancer	Fetal Heart	heart
18	chr12:49687000-49687800	Enhancers	Right Atrium	heart
19	chr12:49687000-49688000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr12:49687000-49688200	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr12:49687000-49689000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:49687000-49689200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:49687200-49687800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:49687200-49687800	Bivalent Enhancer	HUVEC	blood vessel
25	chr12:49687200-49688000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr12:49687200-49689000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:49687200-49689000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:49687200-49689200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:49687400-49687800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:49687400-49687800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:49687400-49687800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr12:49687400-49687800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:49687400-49688000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:49687400-49688600	Bivalent Enhancer	Fetal Lung	lung
35	chr12:49687400-49688800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:49687400-49689000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr12:49687400-49690000	Bivalent Enhancer	Fetal Thymus	thymus
38	chr12:49687400-49690600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr12:49687600-49687800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr12:49687600-49687800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr12:49687600-49687800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr12:49687600-49687800	Flanking Active TSS	Spleen	Spleen
43	chr12:49687600-49688000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr12:49687600-49688000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
45	chr12:49687600-49688600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:49687600-49689000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr12:49687600-49689000	Weak transcription	Gastric	stomach
48	chr12:49687600-49689200	Weak transcription	Ovary	ovary
49	chr12:49687600-49690400	Weak transcription	Lung	lung
50	chr12:49687600-49690600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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