Variant report

Variant	rs60218907
Chromosome Location	chr2:30916175-30916176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30890177..30892213-chr2:30915281..30917473,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11887038	0.85[EUR][1000 genomes]
rs17010034	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1879277	0.92[EUR][1000 genomes]
rs1879278	0.92[EUR][1000 genomes]
rs60432407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61473948	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66649138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67680703	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67748367	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68014179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68064015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72613836	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72613837	0.90[ASN][1000 genomes]
rs72613838	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72613839	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72613840	0.92[EUR][1000 genomes]
rs72613841	0.92[EUR][1000 genomes]
rs72613842	0.92[EUR][1000 genomes]
rs72613843	0.84[EUR][1000 genomes]
rs72613844	0.92[EUR][1000 genomes]
rs72613846	0.92[EUR][1000 genomes]
rs72613847	0.92[EUR][1000 genomes]
rs72613848	0.92[EUR][1000 genomes]
rs72613849	0.92[EUR][1000 genomes]
rs72613850	0.92[EUR][1000 genomes]
rs72613851	0.92[EUR][1000 genomes]
rs72613852	0.92[EUR][1000 genomes]
rs72613853	0.92[EUR][1000 genomes]
rs72613854	0.92[EUR][1000 genomes]
rs72613855	0.92[EUR][1000 genomes]
rs72613856	0.92[EUR][1000 genomes]
rs72613857	0.92[EUR][1000 genomes]
rs72613858	0.92[EUR][1000 genomes]
rs72613859	0.92[EUR][1000 genomes]
rs72613860	0.92[EUR][1000 genomes]
rs72613861	0.92[EUR][1000 genomes]
rs72613862	0.85[EUR][1000 genomes]
rs72865470	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607943	0.92[EUR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30910600-30918200	Enhancers	Right Ventricle	heart
3	chr2:30912600-30916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:30912600-30917200	Weak transcription	Fetal Lung	lung
5	chr2:30913000-30917000	Enhancers	Fetal Heart	heart
6	chr2:30913400-30916600	Weak transcription	Left Ventricle	heart
7	chr2:30913400-30916600	Weak transcription	Lung	lung
8	chr2:30913400-30916600	Weak transcription	Right Atrium	heart
9	chr2:30913400-30916800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:30913400-30917000	Weak transcription	Psoas Muscle	Psoas
11	chr2:30913400-30917000	Weak transcription	HSMMtube	muscle
12	chr2:30913400-30917200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:30913400-30917200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:30913400-30917800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:30914200-30916600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:30914200-30916800	Weak transcription	Ovary	ovary
17	chr2:30914200-30917000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:30914600-30916800	Weak transcription	Aorta	Aorta
19	chr2:30915000-30916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:30915000-30918200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:30915200-30917600	Enhancers	NHLF	lung
22	chr2:30915200-30918400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:30915600-30916200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:30915600-30917000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:30915600-30917000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:30915600-30917200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:30915600-30918400	Enhancers	NHDF-Ad	bronchial
28	chr2:30915800-30916400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30916000-30916200	Enhancers	Primary B cells from cord blood	blood
30	chr2:30916000-30916200	Enhancers	Osteobl	bone
31	chr2:30916000-30917200	Weak transcription	Spleen	Spleen

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