Variant report

Variant	rs555744611
Chromosome Location	chr13:53423047-53423048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr13:53422927-53423147	H1-hESC	embryonic stem cell:	n/a	chr13:53422984-53422998 chr13:53422986-53422996
2	MAX	chr13:53421857-53423279	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:53422422-53423366	H1-neurons	neurons:	n/a	n/a
4	MAX	chr13:53422134-53423148	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr13:53421876-53423196	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr13:53421904-53423203	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr13:53422663-53426246	HL-60	blood:	n/a	chr13:53424040-53424053 chr13:53422864-53422877 chr13:53424988-53425001 chr13:53425721-53425731 chr13:53424411-53424421 chr13:53425716-53425729 chr13:53422984-53422998 chr13:53422986-53422996 chr13:53425719-53425733 chr13:53424936-53424945 chr13:53424047-53424057
8	POLR2A	chr13:53422438-53423075	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr13:53422925-53423121	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:53422901-53423101	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr13:53421886-53423054	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr13:53422439-53423069	H1-neurons	neurons:	n/a	n/a
13	CTBP2	chr13:53422505-53423298	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr13:53422223-53423300	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr13:53422642-53423065	H1-hESC	embryonic stem cell:	n/a	chr13:53422780-53422790
16	REST	chr13:53422151-53423511	H1-neurons	neurons:	n/a	chr13:53422864-53422877 chr13:53422984-53422998 chr13:53422986-53422996
17	SP1	chr13:53422592-53423060	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr13:53422302-53423115	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53423037-53423087	Hepatocyte	liver:	n/a
2	chr13:53423037-53423087	AG04449	skin:	fetal
3	chr13:53423037-53423087	SK-N-MC	brain:	n/a
4	chr13:53423037-53423087	HCPEpiC	choroid plexus:	n/a
5	chr13:53423037-53423087	U87	brain:	n/a
6	chr13:53423037-53423087	AG09309	skin:	n/a
7	chr13:53423037-53423087	SK-N-SH_RA	brain:	n/a
8	chr13:53423037-53423087	GM12892	blood:	n/a
9	chr13:53423037-53423087	H1-hESC	embryonic stem cell:	embryo
10	chr13:53423037-53423087	HNPCEpiC	eye:	n/a
11	chr13:53423037-53423087	PFSK-1	brain:	n/a
12	chr13:53423037-53423087	MCF10A-Er-Src	breast:	n/a
13	chr13:53423037-53423087	HRCEpiC	kidney:	n/a
14	chr13:53423037-53423087	HAEpiC	amniotic membrane:	n/a
15	chr13:53423037-53423087	ProgFib	skin:	n/a
16	chr13:53423037-53423087	AG09319	gingival:	n/a
17	chr13:53423037-53423087	SKMC	muscle:	n/a
18	chr13:53423037-53423087	NB4	blood:	n/a
19	chr13:53423037-53423087	PrEC	prostate:	n/a
20	chr13:53423037-53423087	SAEC	small airway:	n/a
21	chr13:53423037-53423087	AoSMC	blood vessel:	n/a
22	chr13:53423037-53423087	Hela-S3	cervix:	n/a
23	chr13:53423037-53423087	NT2-D1	testis:	n/a
24	chr13:53423037-53423087	NHDF-neo	bronchial:	n/a
25	chr13:53423037-53423087	HCT-116	colon:	n/a
26	chr13:53423037-53423087	HL-60	blood:	n/a
27	chr13:53423037-53423087	NHBE	bronchial:	n/a
28	chr13:53423037-53423087	NH-A	brain:	n/a
29	chr13:53423037-53423087	A549	lung:	n/a
30	chr13:53423037-53423087	K562	blood:	n/a
31	chr13:53423037-53423087	IMR90	lung:	fetal
32	chr13:53423037-53423087	CMK	blood:	n/a
33	chr13:53423037-53423087	HCM	heart:	n/a
34	chr13:53423037-53423087	AG04450	lung:	fetal
35	chr13:53423037-53423087	AG10803	skin:	n/a
36	chr13:53423037-53423087	ovcar-3	ovarian:	n/a
37	chr13:53423037-53423087	PANC-1	pancreas:	n/a
38	chr13:53423037-53423087	HPAEpiC	pulmonary alveolar:	n/a
39	chr13:53423037-53423087	T-47D	breast:	n/a
40	chr13:53423037-53423087	BE2_C	brain:	n/a
41	chr13:53423037-53423087	HUVEC	blood vessel:	n/a
42	chr13:53423037-53423087	GM19239	blood:	n/a
43	chr13:53423037-53423087	GM12891	blood:	n/a
44	chr13:53423037-53423087	HEEpiC	esophagus:	n/a
45	chr13:53423037-53423087	GM06990	blood:	n/a
46	chr13:53423037-53423087	SK-N-SH	brain:	n/a
47	chr13:53423037-53423087	HMEC	breast:	n/a
48	chr13:53423037-53423087	GM12878	blood:	n/a
49	chr13:53423037-53423087	RPTEC	kidney:	n/a
50	chr13:53423037-53423087	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53422829..53424558-chr13:53771804..53774307,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCDH8	TF binding region
PCDH8	CpG island
ENSG00000225510	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv900089	chr13:53385334-53429453	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1810064	chr13:53412849-53441018	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1822518	chr13:53412849-53441018	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1829072	chr13:53412849-53441018	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv523092	chr13:53419139-53429453	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv455889	chr13:53419139-53466127	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv561661	chr13:53419139-53466127	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv1794389	chr13:53420344-53423105	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1834136	chr13:53420344-53423105	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1845789	chr13:53420344-53423105	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv561669	chr13:53420344-53423105	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv1842551	chr13:53420679-53423105	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3343078	chr13:53422886-53423183	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53419400-53423200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr13:53419400-53423200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:53419400-53423200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr13:53419600-53424400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr13:53420000-53423200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:53420000-53424000	ZNF genes & repeats	GM12878-XiMat	blood
7	chr13:53420800-53423400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:53421000-53423200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr13:53421000-53423400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr13:53421200-53424800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr13:53421400-53424400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
12	chr13:53421600-53423200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:53421600-53424400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr13:53421800-53426200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr13:53422000-53423400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr13:53422000-53423400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr13:53422200-53423200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr13:53422200-53424600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr13:53422400-53423200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:53422400-53423200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:53422400-53423200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:53422400-53423200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr13:53422400-53423200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr13:53422400-53424400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr13:53422600-53424400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:53422600-53424600	Weak transcription	Gastric	stomach
27	chr13:53422600-53424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr13:53422600-53424800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:53422800-53423200	Bivalent Enhancer	Esophagus	oesophagus
30	chr13:53422800-53423400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:53422800-53423400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
32	chr13:53422800-53424400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr13:53422800-53424600	Weak transcription	Pancreas	Pancrea
34	chr13:53422800-53424600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr13:53423000-53423200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:53423000-53423200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:53423000-53423200	Bivalent Enhancer	Spleen	Spleen
38	chr13:53423000-53423400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:53423000-53423400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:53423000-53423400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:53423000-53423400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr13:53423000-53423400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr13:53423000-53423600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:53423000-53423600	Bivalent Enhancer	Fetal Lung	lung
45	chr13:53423000-53423800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr13:53423000-53423800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr13:53423000-53423800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
48	chr13:53423000-53423800	Flanking Active TSS	Fetal Brain Male	brain
49	chr13:53423000-53424000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr13:53423000-53424600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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