Variant report

Variant	rs34448540
Chromosome Location	chr1:86088791-86088792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86045896..86049345-chr1:86088234..86091419,5	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10782553	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10873709	0.86[ASN][1000 genomes]
rs10873710	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1094359	0.91[ASN][1000 genomes]
rs11161641	0.86[ASN][1000 genomes]
rs11161643	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11161645	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11578464	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1764291	0.80[ASN][1000 genomes]
rs1764299	0.83[ASN][1000 genomes]
rs1928626	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2389970	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2995537	0.82[ASN][1000 genomes]
rs3767162	0.83[ASN][1000 genomes]
rs4949915	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6689925	0.88[ASN][1000 genomes]
rs6699497	0.82[ASN][1000 genomes]
rs709801	0.91[ASN][1000 genomes]
rs821379	0.83[ASN][1000 genomes]
rs821381	0.81[ASN][1000 genomes]
rs821386	0.85[ASN][1000 genomes]
rs821389	0.86[ASN][1000 genomes]
rs821393	0.92[ASN][1000 genomes]
rs821394	0.91[ASN][1000 genomes]
rs821396	0.91[ASN][1000 genomes]
rs821401	0.88[ASN][1000 genomes]
rs843969	0.91[ASN][1000 genomes]
rs952837	0.81[ASN][1000 genomes]
rs9700177	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34448540	C1orf181	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
2	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86085800-86093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:86086200-86088800	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr1:86086600-86088800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:86087200-86089800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:86087400-86088800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr1:86087400-86094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:86087800-86088800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr1:86087800-86088800	ZNF genes & repeats	Dnd41	blood
13	chr1:86087800-86089000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:86087800-86089400	Strong transcription	Primary B cells from cord blood	blood
15	chr1:86087800-86089400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:86088000-86088800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr1:86088000-86089400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:86088000-86089400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr1:86088000-86090400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:86088200-86088800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:86088200-86088800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:86088200-86088800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:86088200-86088800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:86088200-86088800	ZNF genes & repeats	Liver	Liver
25	chr1:86088200-86089400	Enhancers	HSMMtube	muscle
26	chr1:86088200-86089400	Enhancers	NHDF-Ad	bronchial
27	chr1:86088200-86089400	Enhancers	NHLF	lung
28	chr1:86088200-86089400	Enhancers	Osteobl	bone
29	chr1:86088200-86089600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:86088200-86089600	Enhancers	NH-A	brain
31	chr1:86088200-86094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:86088400-86088800	ZNF genes & repeats	Esophagus	oesophagus
34	chr1:86088400-86089000	ZNF genes & repeats	GM12878-XiMat	blood
35	chr1:86088400-86089200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:86088400-86089400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr1:86088400-86089400	ZNF genes & repeats	Ovary	ovary
38	chr1:86088400-86094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:86088600-86088800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:86088600-86088800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr1:86088600-86089000	Weak transcription	K562	blood
45	chr1:86088600-86089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:86088600-86089400	Enhancers	Placenta	Placenta
47	chr1:86088600-86089600	Enhancers	HSMM	muscle
48	chr1:86088600-86090400	Strong transcription	A549	lung
49	chr1:86088600-86091800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:86088600-86092200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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