Variant report

Variant	rs10874793
Chromosome Location	chr1:94158695-94158696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94157790..94160222-chr1:94162469..94164746,2	K562	blood:
2	chr1:94146824..94149615-chr1:94158501..94160523,4	MCF-7	breast:
3	chr1:94150767..94155477-chr1:94157317..94159691,6	MCF-7	breast:
4	chr1:94155482..94158108-chr1:94158298..94159842,2	MCF-7	breast:
5	chr1:94146120..94150945-chr1:94154288..94160235,6	MCF-7	breast:
6	chr1:94157694..94160126-chr1:94167875..94169422,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-3	chr1:94158694-94159071	NONHSAT004543

No data

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10735786	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092517	0.91[ASN][1000 genomes]
rs12760246	0.82[ASN][1000 genomes]
rs1891139	1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1891140	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893248	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666022	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10874793	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
2	chr1:94152200-94159000	Enhancers	Fetal Intestine Small	intestine
3	chr1:94153800-94171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94154600-94159000	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:94155200-94159400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:94155200-94159800	Enhancers	Fetal Intestine Large	intestine
7	chr1:94155200-94159800	Enhancers	HepG2	liver
8	chr1:94155600-94171000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:94156400-94161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:94156400-94162400	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:94156600-94159000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:94156600-94159600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:94156600-94159600	Enhancers	Fetal Thymus	thymus
14	chr1:94156600-94160600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:94156600-94161600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:94156600-94162200	Enhancers	Placenta	Placenta
17	chr1:94156800-94158800	Enhancers	Adipose Nuclei	Adipose
18	chr1:94156800-94159200	Enhancers	Thymus	Thymus
19	chr1:94156800-94159400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:94156800-94160200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:94156800-94161000	Enhancers	HSMMtube	muscle
22	chr1:94156800-94161400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:94156800-94162200	Enhancers	Primary B cells from cord blood	blood
24	chr1:94157000-94160600	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:94157000-94160800	Enhancers	Lung	lung
26	chr1:94157200-94159000	Enhancers	Fetal Kidney	kidney
27	chr1:94157200-94159000	Enhancers	Fetal Lung	lung
28	chr1:94157200-94160400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:94157200-94165400	Weak transcription	Pancreas	Pancrea
30	chr1:94157400-94159800	Flanking Active TSS	A549	lung
31	chr1:94157400-94160200	Enhancers	HUVEC	blood vessel
32	chr1:94157400-94167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:94157600-94159000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:94157600-94159000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:94157600-94159400	Enhancers	Esophagus	oesophagus
36	chr1:94157600-94159600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:94157600-94160400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:94157600-94160800	Flanking Active TSS	Hela-S3	cervix
39	chr1:94157600-94161000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:94157600-94161200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:94157800-94158800	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:94157800-94158800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:94157800-94158800	Flanking Active TSS	NHLF	lung
44	chr1:94157800-94159000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:94157800-94159600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:94157800-94159600	Flanking Active TSS	NHDF-Ad	bronchial
47	chr1:94157800-94160600	Flanking Active TSS	NHEK	skin
48	chr1:94158000-94158800	Weak transcription	Right Ventricle	heart
49	chr1:94158000-94159000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:94158000-94159000	Enhancers	Small Intestine	intestine

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