Variant report

Variant	rs72863050
Chromosome Location	chr2:30863884-30863885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30849068..30850871-chr2:30861808..30864267,2	K562	blood:
2	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:
3	chr2:30861456..30863963-chr2:30882703..30885860,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPN13-1	chr2:30863313-30864109	ENSG00000248067

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58730941	0.92[AFR][1000 genomes]
rs59228351	0.94[AFR][1000 genomes]
rs6718986	0.92[AFR][1000 genomes]
rs6738751	0.92[AFR][1000 genomes]
rs6747522	0.88[AFR][1000 genomes]
rs72858990	0.92[AFR][1000 genomes]
rs72863005	0.88[AFR][1000 genomes]
rs72863019	0.94[AFR][1000 genomes]
rs72863027	0.83[AFR][1000 genomes]
rs72863089	0.88[AFR][1000 genomes]
rs72863091	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:30850400-30869200	Weak transcription	Gastric	stomach
9	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
14	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
16	chr2:30854400-30865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
19	chr2:30854600-30864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:30855000-30865000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30855000-30865400	Weak transcription	HSMM	muscle
22	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
25	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
26	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
27	chr2:30860200-30865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
29	chr2:30860400-30878200	Weak transcription	NHLF	lung
30	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
31	chr2:30861600-30864200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:30861600-30864400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:30861600-30864600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:30861600-30864800	Strong transcription	Primary B cells from cord blood	blood
35	chr2:30861600-30864800	Weak transcription	NHEK	skin
36	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
39	chr2:30862200-30864600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:30862400-30864800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:30862400-30866800	Weak transcription	HMEC	breast
43	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:30862600-30864200	Strong transcription	Left Ventricle	heart
45	chr2:30862600-30865000	Weak transcription	Fetal Kidney	kidney
46	chr2:30862600-30865200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:30862800-30864000	Strong transcription	Right Ventricle	heart
48	chr2:30862800-30864000	Strong transcription	Thymus	Thymus
49	chr2:30862800-30864200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:30862800-30864200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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