Variant report

Variant	rs1245481
Chromosome Location	chr1:95116807-95116808
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	chr1:95115535..95119175-chr1:95123580..95126438,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-4	chr1:95116100-95116934	NONHSAT004604

Variant related genes	Relation type
ENSG00000224081	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12128484	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12738550	0.85[CHD][hapmap]
rs1778194	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1245481	GCLM	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
2	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:95110600-95118800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:95110600-95119000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:95112200-95119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:95112600-95119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:95112600-95119000	Weak transcription	Placenta	Placenta
8	chr1:95113000-95119000	Weak transcription	Lung	lung
9	chr1:95113600-95119000	Weak transcription	Pancreas	Pancrea
10	chr1:95113600-95119200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:95114400-95119000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:95114600-95117000	Weak transcription	Left Ventricle	heart
13	chr1:95114600-95118800	Weak transcription	Ovary	ovary
14	chr1:95114600-95119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:95114600-95119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:95114600-95119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:95114600-95119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:95114600-95119000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:95114600-95119000	Weak transcription	Aorta	Aorta
20	chr1:95114600-95119000	Weak transcription	Right Atrium	heart
21	chr1:95114600-95119400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:95114600-95123400	Weak transcription	NHDF-Ad	bronchial
23	chr1:95114600-95124000	Weak transcription	Small Intestine	intestine
24	chr1:95114600-95126600	Weak transcription	Esophagus	oesophagus
25	chr1:95114800-95117000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:95114800-95118800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:95114800-95119000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:95114800-95119000	Weak transcription	Stomach Mucosa	stomach
29	chr1:95114800-95119000	Weak transcription	HSMM	muscle
30	chr1:95114800-95119200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:95114800-95123800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:95115000-95119000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:95115400-95119200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:95115600-95119000	Weak transcription	NHLF	lung
35	chr1:95116000-95118800	Weak transcription	Hela-S3	cervix
36	chr1:95116000-95119000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:95116200-95118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:95116200-95119000	Weak transcription	HMEC	breast
39	chr1:95116200-95119000	Weak transcription	NH-A	brain
40	chr1:95116600-95117800	Enhancers	Fetal Heart	heart
41	chr1:95116600-95119000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:95116800-95117400	Enhancers	NHEK	skin
43	chr1:95116800-95117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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