Variant report

Variant	rs61473948
Chromosome Location	chr2:30917504-30917505
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	chr2:30911934..30915196-chr2:30916414..30919357,3	K562	blood:
2	chr2:30884077..30886953-chr2:30917137..30920248,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCLAT1-1	chr2:30916445-30920389	XLOC_001413

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17010034	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60218907	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60432407	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66649138	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67680703	0.94[ASN][1000 genomes]
rs67748367	0.94[ASN][1000 genomes]
rs68014179	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs68064015	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72613836	0.90[ASN][1000 genomes]
rs72613837	0.90[ASN][1000 genomes]
rs72613838	0.90[ASN][1000 genomes]
rs72613839	0.87[ASN][1000 genomes]
rs72865470	0.94[ASN][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:32 , 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	chr2:30913400-30917800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:30915000-30918200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:30915200-30917600	Enhancers	NHLF	lung
6	chr2:30915200-30918400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:30915600-30918400	Enhancers	NHDF-Ad	bronchial
8	chr2:30916600-30918200	Enhancers	Right Atrium	heart
9	chr2:30916600-30918200	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:30916600-30918400	Enhancers	Left Ventricle	heart
11	chr2:30916800-30918000	Enhancers	Osteobl	bone
12	chr2:30916800-30918200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:30916800-30918400	Enhancers	Aorta	Aorta
14	chr2:30916800-30918600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:30917000-30917600	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:30917000-30917600	Enhancers	Fetal Stomach	stomach
17	chr2:30917000-30918000	Enhancers	HSMM	muscle
18	chr2:30917000-30918200	Enhancers	Fetal Muscle Leg	muscle
19	chr2:30917000-30918200	Enhancers	HSMMtube	muscle
20	chr2:30917000-30918400	Enhancers	Psoas Muscle	Psoas
21	chr2:30917200-30917600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr2:30917200-30917800	Enhancers	Fetal Lung	lung
23	chr2:30917200-30918000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:30917200-30918000	Enhancers	Colon Smooth Muscle	Colon
25	chr2:30917200-30918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:30917200-30918200	Enhancers	Fetal Brain Male	brain
27	chr2:30917200-30918200	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:30917200-30918400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:30917200-30918600	Enhancers	Fetal Heart	heart
30	chr2:30917400-30917600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:30917400-30917800	Enhancers	NH-A	brain
32	chr2:30917400-30920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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