Variant report

Variant	rs2893248
Chromosome Location	chr1:94160787-94160788
allele	C/T
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94151003..94153408-chr1:94159847..94162420,2	MCF-7	breast:
2	chr1:94159323..94161340-chr1:94172138..94174282,2	MCF-7	breast:
3	chr1:94159861..94162335-chr14:63646613..63648344,2	MCF-7	breast:
4	chr1:94160059..94162783-chr1:94164922..94167599,3	K562	blood:
5	chr1:94160042..94161797-chr1:94164816..94167115,2	MCF-7	breast:
6	chr1:94159426..94161793-chr1:94168321..94171203,3	MCF-7	breast:
7	chr1:94147624..94149289-chr1:94160364..94162854,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-3	chr1:94159835-94161080	NONHSAT004543

No data

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10735786	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891140	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656270	0.85[MEX][hapmap]
rs6666022	0.88[AMR][1000 genomes];0.82[EUR][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
rs2893248	C1orf146	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
2	chr1:94153800-94171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:94155600-94171000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:94156400-94161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:94156400-94162400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:94156600-94161600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:94156600-94162200	Enhancers	Placenta	Placenta
8	chr1:94156800-94161000	Enhancers	HSMMtube	muscle
9	chr1:94156800-94161400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:94156800-94162200	Enhancers	Primary B cells from cord blood	blood
11	chr1:94157000-94160800	Enhancers	Lung	lung
12	chr1:94157200-94165400	Weak transcription	Pancreas	Pancrea
13	chr1:94157400-94167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94157600-94160800	Flanking Active TSS	Hela-S3	cervix
15	chr1:94157600-94161000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:94157600-94161200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:94158200-94162000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:94158200-94162400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:94158400-94165200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:94158400-94166600	Weak transcription	Gastric	stomach
21	chr1:94158400-94168200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:94158800-94161000	Weak transcription	Adipose Nuclei	Adipose
23	chr1:94158800-94162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:94158800-94166400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:94159000-94160800	Enhancers	Osteobl	bone
26	chr1:94159000-94161400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:94159000-94161800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:94159000-94173600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:94159200-94160800	Weak transcription	Thymus	Thymus
30	chr1:94159200-94161600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:94159400-94161200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:94159400-94162000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:94159400-94165000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:94159600-94160800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:94159600-94160800	Weak transcription	Fetal Kidney	kidney
36	chr1:94159600-94161000	Weak transcription	Fetal Thymus	thymus
37	chr1:94159600-94161000	Enhancers	GM12878-XiMat	blood
38	chr1:94159600-94161200	Enhancers	Esophagus	oesophagus
39	chr1:94159600-94161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:94159600-94161400	Enhancers	NHDF-Ad	bronchial
41	chr1:94159600-94161600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:94159600-94166200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:94159600-94173800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:94160000-94161600	Enhancers	HSMM	muscle
45	chr1:94160400-94160800	Enhancers	Spleen	Spleen
46	chr1:94160400-94160800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:94160400-94161000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:94160400-94161000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:94160400-94161600	Enhancers	HMEC	breast
50	chr1:94160400-94161800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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