Variant report

Variant	rs561036936
Chromosome Location	chr12:49687156-49687157
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 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	CTBP2	chr12:49686916-49687671	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:49687059-49687249	HCT-116	colon:	n/a	n/a
4	PBX3	chr12:49686764-49687285	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:49686933-49687314	U87	brain:	n/a	n/a
6	KAP1	chr12:49686318-49689281	HEK293	kidney:	n/a	chr12:49687857-49687865
7	ZNF263	chr12:49686189-49687666	HEK293-T-REx	kidney:	n/a	n/a
8	POLR2A	chr12:49686663-49687585	PFSK-1	brain:	n/a	n/a
9	FOXP2	chr12:49686882-49687465	PFSK-1	brain:	n/a	n/a

No data

(count:14 , 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	chr12:49667022..49669779-chr12:49685141..49687257,2	K562	blood:
4	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
5	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
6	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
7	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
8	chr12:49685018..49687263-chr12:49715369..49717175,2	K562	blood:
9	chr12:49667022..49671096-chr12:49685141..49687523,3	K562	blood:
10	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
11	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
12	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
13	chr12:49665854..49668915-chr12:49685671..49689413,3	MCF-7	breast:
14	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1QL4-1	chr12:49686647-49687484	NONHSAT028095
2	lnc-PRPH-1	chr12:49687035-49687324	NONHSAT028100

No data

Variant related genes	Relation type
PRPH	TF binding region
ENSG00000258334	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000258232	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49686000-49687200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:49686200-49687600	Enhancers	NHLF	lung
3	chr12:49686200-49687800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:49686200-49687800	Enhancers	K562	blood
5	chr12:49686400-49687800	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:49686400-49688000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:49686400-49688800	Enhancers	A549	lung
8	chr12:49686600-49687200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr12:49686600-49687200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:49686600-49687200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr12:49686600-49687200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:49686600-49687600	Enhancers	Gastric	stomach
13	chr12:49686600-49687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:49686600-49688800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49686600-49689800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr12:49686600-49692000	Bivalent Enhancer	Placenta	Placenta
17	chr12:49686800-49687200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:49686800-49687200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr12:49686800-49687200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr12:49686800-49687200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr12:49686800-49687400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:49686800-49687400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:49686800-49687400	Enhancers	Left Ventricle	heart
24	chr12:49686800-49687400	Enhancers	HSMM	muscle
25	chr12:49686800-49687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr12:49686800-49687600	Bivalent Enhancer	Fetal Brain Male	brain
27	chr12:49686800-49687600	Bivalent Enhancer	Fetal Brain Female	brain
28	chr12:49686800-49687600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr12:49686800-49687600	Enhancers	Lung	lung
30	chr12:49686800-49687600	Enhancers	Ovary	ovary
31	chr12:49686800-49687600	Enhancers	Spleen	Spleen
32	chr12:49686800-49687600	Enhancers	Hela-S3	cervix
33	chr12:49686800-49687600	Enhancers	HSMMtube	muscle
34	chr12:49686800-49688600	Enhancers	Right Ventricle	heart
35	chr12:49686800-49689000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr12:49686800-49689400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:49687000-49687200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr12:49687000-49687200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:49687000-49687200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:49687000-49687200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:49687000-49687200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:49687000-49687200	Enhancers	Aorta	Aorta
43	chr12:49687000-49687200	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr12:49687000-49687200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:49687000-49687200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr12:49687000-49687200	Flanking Active TSS	Esophagus	oesophagus
47	chr12:49687000-49687200	Enhancers	Pancreas	Pancrea
48	chr12:49687000-49687200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:49687000-49687400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:49687000-49687400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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