Variant report

Variant	rs72787716
Chromosome Location	chr2:30472355-30472356
allele	C/T
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	chr2:30470318..30472928-chr2:30883308..30885388,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1001204	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10171296	0.90[EUR][1000 genomes]
rs10171305	0.90[EUR][1000 genomes]
rs11676884	0.95[ASN][1000 genomes]
rs13386455	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13389106	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17009304	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17321999	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1962588	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2089657	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362541	0.94[ASN][1000 genomes]
rs3813658	0.97[ASN][1000 genomes]
rs3817143	0.89[EUR][1000 genomes]
rs4384829	0.95[ASN][1000 genomes]
rs4564821	0.96[ASN][1000 genomes]
rs4952115	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58645306	0.97[ASN][1000 genomes]
rs59693338	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6548005	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708792	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732241	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787718	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72787719	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72787721	0.89[EUR][1000 genomes]
rs72787722	0.88[EUR][1000 genomes]
rs72787724	0.89[EUR][1000 genomes]
rs73925103	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604484	0.88[EUR][1000 genomes]
rs906865	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs906866	0.94[ASN][1000 genomes]
rs906867	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309678	0.88[EUR][1000 genomes]
rs9558	0.88[EUR][1000 genomes]
rs9798481	0.96[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:87 , 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	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:30457800-30481000	Weak transcription	Gastric	stomach
4	chr2:30458400-30475800	Weak transcription	Fetal Kidney	kidney
5	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:30462200-30473200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:30462800-30474800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:30462800-30475400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:30463000-30473000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:30463000-30474200	Weak transcription	Fetal Intestine Large	intestine
11	chr2:30463000-30474800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:30463000-30475400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr2:30463400-30472400	Strong transcription	HSMM	muscle
14	chr2:30463400-30473400	Weak transcription	Ovary	ovary
15	chr2:30463400-30474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:30463400-30474800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:30463400-30475000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:30463400-30475400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:30463400-30475600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:30463400-30475600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:30463400-30475600	Weak transcription	Esophagus	oesophagus
22	chr2:30463600-30472400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:30463600-30473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:30463600-30475600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:30463600-30475600	Weak transcription	Osteobl	bone
26	chr2:30463800-30474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:30464200-30472400	Weak transcription	Right Atrium	heart
28	chr2:30464200-30474600	Weak transcription	Small Intestine	intestine
29	chr2:30465400-30474000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:30465400-30480000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:30466000-30477000	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr2:30466200-30474000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:30466200-30476400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:30466200-30480400	Weak transcription	Fetal Brain Male	brain
35	chr2:30466600-30474600	Weak transcription	NH-A	brain
36	chr2:30467200-30475600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:30467400-30475600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:30467600-30479600	Weak transcription	Fetal Brain Female	brain
39	chr2:30468000-30475400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:30468600-30472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:30468600-30475600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:30469000-30473200	Weak transcription	Dnd41	blood
43	chr2:30469400-30472400	Strong transcription	Primary B cells from cord blood	blood
44	chr2:30469800-30475000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:30470000-30472800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:30470200-30474400	Genic enhancers	NHLF	lung
47	chr2:30470400-30472800	Genic enhancers	NHDF-Ad	bronchial
48	chr2:30470400-30473200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:30470400-30474800	Enhancers	K562	blood
50	chr2:30470400-30478000	Enhancers	Left Ventricle	heart

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