Variant report

Variant	rs184465464
Chromosome Location	chr2:234264830-234264831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
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	POLR2A	chr2:234263905-234266140	GM12891	blood:	n/a	n/a
2	WRNIP1	chr2:234264818-234265022	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
2	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
3	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
4	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
5	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
6	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
7	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
8	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
9	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000201013	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000077044	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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:234263600-234265000	Flanking Active TSS	Placenta	Placenta
4	chr2:234263600-234265200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234263800-234265000	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr2:234263800-234265000	Flanking Active TSS	NHEK	skin
7	chr2:234263800-234265200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr2:234263800-234265200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:234263800-234265200	Flanking Active TSS	Dnd41	blood
10	chr2:234263800-234265400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr2:234263800-234265400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr2:234263800-234266200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:234263800-234268400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:234263800-234268400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr2:234264000-234265000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr2:234264000-234265000	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr2:234264000-234265000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr2:234264000-234265000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr2:234264000-234265000	Flanking Active TSS	Hela-S3	cervix
20	chr2:234264000-234265200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:234264000-234266000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:234264000-234266000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:234264000-234266000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr2:234264000-234266000	Transcr. at gene 5' and 3'	A549	lung
25	chr2:234264000-234266000	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:234264000-234267800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:234264200-234265000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr2:234264200-234265000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:234264200-234265400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:234264200-234266000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:234264200-234266000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:234264200-234266600	Enhancers	Spleen	Spleen
33	chr2:234264400-234265000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr2:234264400-234265000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:234264400-234265000	Enhancers	Osteobl	bone
36	chr2:234264400-234265200	Enhancers	Psoas Muscle	Psoas
37	chr2:234264400-234265400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
38	chr2:234264400-234265400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:234264400-234265600	Enhancers	Fetal Muscle Leg	muscle
40	chr2:234264400-234265800	Enhancers	Brain Substantia Nigra	brain
41	chr2:234264400-234265800	Enhancers	HMEC	breast
42	chr2:234264400-234266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:234264400-234266000	Enhancers	Liver	Liver
44	chr2:234264400-234266000	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:234264400-234266000	Enhancers	Left Ventricle	heart
46	chr2:234264400-234266000	Enhancers	Pancreas	Pancrea
47	chr2:234264400-234266000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:234264400-234266000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:234264400-234266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:234264400-234266600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links