Variant report

Variant	rs190135236
Chromosome Location	chr2:86565244-86565245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr2:86564787-86565392	MCF-7	breast:	n/a	chr2:86564789-86564799 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564963-86564971 chr2:86564963-86564971
2	POLR2A	chr2:86563062-86565332	H1-neurons	neurons:	n/a	n/a
3	SIN3A	chr2:86563706-86565367	H1-hESC	embryonic stem cell:	n/a	chr2:86564364-86564377 chr2:86565008-86565017
4	KAP1	chr2:86565184-86565539	HEK293	kidney:	n/a	n/a
5	CTBP2	chr2:86564814-86565257	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr2:86562875-86565396	H1-neurons	neurons:	n/a	chr2:86565007-86565017 chr2:86564371-86564381 chr2:86565005-86565019 chr2:86564247-86564256 chr2:86565017-86565030 chr2:86564904-86564917

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86565216-86565266	HepG2	liver:	n/a
2	chr2:86565216-86565266	HNPCEpiC	eye:	n/a
3	chr2:86565216-86565266	HCF	heart:	n/a
4	chr2:86565216-86565266	HEK293	kidney:	embryo
5	chr2:86565216-86565266	IMR90	lung:	fetal
6	chr2:86565216-86565266	ECC-1	luminal epithelium:	n/a
7	chr2:86565216-86565266	NHBE	bronchial:	n/a
8	chr2:86565216-86565266	K562	blood:	n/a
9	chr2:86565216-86565266	AG10803	skin:	n/a
10	chr2:86565216-86565266	SAEC	small airway:	n/a
11	chr2:86565216-86565266	AG04449	skin:	fetal
12	chr2:86565216-86565266	HL-60	blood:	n/a
13	chr2:86565216-86565266	HRE	kidney:	n/a
14	chr2:86565216-86565266	GM12892	blood:	n/a
15	chr2:86565216-86565266	SKMC	muscle:	n/a
16	chr2:86565216-86565266	PANC-1	pancreas:	n/a
17	chr2:86565216-86565266	HMEC	breast:	n/a
18	chr2:86565216-86565266	GM12878	blood:	n/a
19	chr2:86565216-86565266	HUVEC	blood vessel:	n/a
20	chr2:86565216-86565266	NT2-D1	testis:	n/a
21	chr2:86565216-86565266	SK-N-MC	brain:	n/a
22	chr2:86565216-86565266	LNCaP	prostate:	n/a
23	chr2:86565216-86565266	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:86565216-86565266	Jurkat	blood:	n/a
25	chr2:86565216-86565266	BE2_C	brain:	n/a
26	chr2:86565216-86565266	ovcar-3	ovarian:	n/a
27	chr2:86565216-86565266	NB4	blood:	n/a
28	chr2:86565216-86565266	ProgFib	skin:	n/a
29	chr2:86565216-86565266	A549	lung:	n/a
30	chr2:86565216-86565266	Hela-S3	cervix:	n/a
31	chr2:86565216-86565266	HCT-116	colon:	n/a
32	chr2:86565216-86565266	SK-N-SH	brain:	n/a
33	chr2:86565216-86565266	AG09319	gingival:	n/a
34	chr2:86565216-86565266	AoSMC	blood vessel:	n/a
35	chr2:86565216-86565266	GM06990	blood:	n/a
36	chr2:86565216-86565266	NH-A	brain:	n/a
37	chr2:86565216-86565266	BJ	skin:	n/a
38	chr2:86565216-86565266	GM12891	blood:	n/a
39	chr2:86565216-86565266	GM19239	blood:	n/a
40	chr2:86565216-86565266	Caco-2	colon:	n/a
41	chr2:86565216-86565266	HRCEpiC	kidney:	n/a
42	chr2:86565216-86565266	PrEC	prostate:	n/a
43	chr2:86565216-86565266	SK-N-SH_RA	brain:	n/a
44	chr2:86565216-86565266	T-47D	breast:	n/a
45	chr2:86565216-86565266	U87	brain:	n/a
46	chr2:86565216-86565266	PFSK-1	brain:	n/a
47	chr2:86565216-86565266	HCM	heart:	n/a
48	chr2:86565216-86565266	RPTEC	kidney:	n/a
49	chr2:86565216-86565266	H1-hESC	embryonic stem cell:	embryo
50	chr2:86565216-86565266	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
REEP1	TF binding region
REEP1	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	esv3357801	chr2:86563266-86566214	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448068	chr2:86563641-86565889	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86563000-86565600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:86563400-86565600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:86563400-86565600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:86563600-86565400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr2:86563600-86565600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:86563600-86565600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:86563600-86565600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:86563800-86565400	Bivalent/Poised TSS	Thymus	Thymus
9	chr2:86564000-86565400	Active TSS	Right Ventricle	heart
10	chr2:86564000-86565600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr2:86564000-86565600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr2:86564200-86565400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:86564200-86565400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:86564200-86565600	Active TSS	Lung	lung
15	chr2:86564400-86565400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:86564800-86565400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
17	chr2:86564800-86565400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:86564800-86565400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:86564800-86565400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:86564800-86565400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:86564800-86565600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr2:86565000-86565400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:86565000-86565400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:86565000-86565400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
28	chr2:86565000-86565400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:86565000-86565400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:86565000-86565400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr2:86565000-86565400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr2:86565000-86565400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr2:86565000-86565400	Flanking Active TSS	Fetal Heart	heart
40	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr2:86565000-86565400	Flanking Active TSS	Left Ventricle	heart
44	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr2:86565000-86565400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr2:86565000-86565400	Bivalent/Poised TSS	GM12878-XiMat	blood
47	chr2:86565000-86565400	Flanking Active TSS	Hela-S3	cervix
48	chr2:86565000-86565400	Flanking Active TSS	HSMMtube	muscle
49	chr2:86565000-86565600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:86565000-86565600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links