Variant report

Variant	rs4952114
Chromosome Location	chr2:30475300-30475301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:30474581..30476243-chr2:30884375..30886105,2	K562	blood:
2	chr2:30474584..30477299-chr2:30489169..30490893,2	K562	blood:
3	chr2:30452787..30458792-chr2:30474216..30479125,11	K562	blood:
4	chr2:30474548..30476330-chr2:30492320..30495735,4	K562	blood:
5	chr2:30412652..30418181-chr2:30474392..30478394,5	K562	blood:
6	chr2:30470010..30473545-chr2:30474573..30477601,4	K562	blood:
7	chr2:30470929..30473564-chr2:30474573..30477601,4	K562	blood:
8	chr2:30463829..30466143-chr2:30472791..30475972,4	K562	blood:
9	chr2:30451092..30457677-chr2:30474497..30480716,15	K562	blood:
10	chr2:30459999..30464804-chr2:30474137..30477672,6	K562	blood:
11	chr2:30474548..30476330-chr2:30493657..30495735,3	K562	blood:
12	chr2:30457858..30460277-chr2:30473755..30476331,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001202	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1001203	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11127261	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11127262	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11675079	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11679132	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11679137	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11687193	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688651	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11690392	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11690435	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11690629	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11690883	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694534	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11694679	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12714304	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12996578	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13027149	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13030064	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13030740	0.81[EUR][1000 genomes]
rs13422834	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34097147	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35163883	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6736034	0.81[EUR][1000 genomes]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:30457800-30481000	Weak transcription	Gastric	stomach
3	chr2:30458400-30475800	Weak transcription	Fetal Kidney	kidney
4	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:30462800-30475400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30463000-30475400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr2:30463400-30475400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:30463400-30475600	Weak transcription	Brain Germinal Matrix	brain
9	chr2:30463400-30475600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:30463400-30475600	Weak transcription	Esophagus	oesophagus
11	chr2:30463600-30475600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:30463600-30475600	Weak transcription	Osteobl	bone
13	chr2:30465400-30480000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:30466000-30477000	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:30466200-30476400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:30466200-30480400	Weak transcription	Fetal Brain Male	brain
17	chr2:30467200-30475600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:30467400-30475600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:30467600-30479600	Weak transcription	Fetal Brain Female	brain
20	chr2:30468000-30475400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:30468600-30475600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:30470400-30478000	Enhancers	Left Ventricle	heart
23	chr2:30470400-30479600	Genic enhancers	Fetal Thymus	thymus
24	chr2:30471000-30484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:30471200-30479600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30471200-30482000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:30471400-30479400	Enhancers	Placenta	Placenta
28	chr2:30471800-30481600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:30472200-30475600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:30472200-30476200	Enhancers	Lung	lung
31	chr2:30472200-30478800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:30472200-30480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:30472400-30478200	Enhancers	Right Atrium	heart
34	chr2:30472600-30480000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:30472600-30483400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:30472800-30475400	Weak transcription	HUVEC	blood vessel
37	chr2:30472800-30475600	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:30472800-30475600	Weak transcription	Psoas Muscle	Psoas
39	chr2:30473000-30475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:30473000-30479600	Enhancers	Fetal Heart	heart
41	chr2:30473200-30476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:30473200-30480000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:30473400-30476200	Enhancers	Ovary	ovary
44	chr2:30473400-30477600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:30473400-30480800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:30473400-30480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:30473600-30475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:30473600-30477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:30474000-30476800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:30474000-30477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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