Variant report

Variant	rs34097147
Chromosome Location	chr2:30473266-30473267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30470010..30473545-chr2:30474573..30477601,4	K562	blood:
2	chr2:30470929..30473564-chr2:30474573..30477601,4	K562	blood:
3	chr2:30463829..30466143-chr2:30472791..30475972,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1001202	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001203	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127261	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127262	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675079	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679132	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679137	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681350	1.00[ASN][1000 genomes]
rs11687193	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688651	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690392	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690435	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690629	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690883	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11694534	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694679	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714304	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996578	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027149	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030064	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030740	0.87[EUR][1000 genomes]
rs13422834	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35163883	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952114	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62141090	1.00[ASN][1000 genomes]
rs62141122	1.00[ASN][1000 genomes]
rs6736034	0.82[EUR][1000 genomes]
rs829585	1.00[ASN][1000 genomes]
rs906864	1.00[ASN][1000 genomes]
rs9967840	1.00[ASN][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:90 , 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	chr2:30462800-30474800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:30462800-30475400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr2:30463000-30474200	Weak transcription	Fetal Intestine Large	intestine
8	chr2:30463000-30474800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30463000-30475400	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr2:30463400-30473400	Weak transcription	Ovary	ovary
11	chr2:30463400-30474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30463400-30474800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:30463400-30475000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:30463400-30475400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:30463400-30475600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:30463400-30475600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:30463400-30475600	Weak transcription	Esophagus	oesophagus
18	chr2:30463600-30475600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:30463600-30475600	Weak transcription	Osteobl	bone
20	chr2:30463800-30474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:30464200-30474600	Weak transcription	Small Intestine	intestine
22	chr2:30465400-30474000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:30465400-30480000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:30466000-30477000	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr2:30466200-30474000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:30466200-30476400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:30466200-30480400	Weak transcription	Fetal Brain Male	brain
28	chr2:30466600-30474600	Weak transcription	NH-A	brain
29	chr2:30467200-30475600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:30467400-30475600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:30467600-30479600	Weak transcription	Fetal Brain Female	brain
32	chr2:30468000-30475400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:30468600-30475600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30469800-30475000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:30470200-30474400	Genic enhancers	NHLF	lung
36	chr2:30470400-30474800	Enhancers	K562	blood
37	chr2:30470400-30478000	Enhancers	Left Ventricle	heart
38	chr2:30470400-30479600	Genic enhancers	Fetal Thymus	thymus
39	chr2:30470600-30475000	Genic enhancers	A549	lung
40	chr2:30470800-30475200	Genic enhancers	Thymus	Thymus
41	chr2:30471000-30484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:30471200-30479600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:30471200-30482000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:30471400-30479400	Enhancers	Placenta	Placenta
45	chr2:30471600-30474000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:30471600-30474800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:30471800-30481600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:30472000-30475000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:30472200-30473600	Strong transcription	Aorta	Aorta
50	chr2:30472200-30474400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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