Variant report

Variant	rs1901436
Chromosome Location	chr2:134432705-134432706
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	chr2:134425826..134428280-chr2:134430493..134432973,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10175700	0.90[ASN][1000 genomes]
rs10439201	0.98[ASN][1000 genomes]
rs12474261	0.83[AMR][1000 genomes]
rs1901437	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1901439	0.91[EUR][1000 genomes]
rs1901440	0.97[ASN][1000 genomes]
rs1901444	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1993135	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2321203	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2874459	0.88[ASN][1000 genomes]
rs4553871	0.83[AMR][1000 genomes]
rs6430443	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6715016	0.93[ASN][1000 genomes]
rs7558993	0.81[AMR][1000 genomes]
rs7595524	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1901436	LOC401010	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134430200-134433400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134430800-134433200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:134431000-134433000	Active TSS	Right Atrium	heart
4	chr2:134431200-134433200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134431400-134433000	Flanking Active TSS	Liver	Liver
6	chr2:134431400-134433000	Active TSS	Brain Angular Gyrus	brain
7	chr2:134431600-134432800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr2:134431600-134432800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:134431600-134432800	Flanking Active TSS	NHLF	lung
10	chr2:134431600-134433000	Active TSS	Brain Anterior Caudate	brain
11	chr2:134431600-134433000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:134431800-134432800	Active TSS	A549	lung
13	chr2:134431800-134433000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:134431800-134433200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:134431800-134433200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:134431800-134433200	Flanking Active TSS	HSMMtube	muscle
17	chr2:134431800-134433200	Flanking Active TSS	NH-A	brain
18	chr2:134432000-134432800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:134432000-134432800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:134432000-134432800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:134432000-134432800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:134432000-134432800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:134432000-134432800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr2:134432000-134432800	Active TSS	Aorta	Aorta
25	chr2:134432000-134432800	Active TSS	Colon Smooth Muscle	Colon
26	chr2:134432000-134432800	Flanking Active TSS	Fetal Kidney	kidney
27	chr2:134432000-134432800	Flanking Active TSS	Fetal Lung	lung
28	chr2:134432000-134432800	Active TSS	Ovary	ovary
29	chr2:134432000-134432800	Enhancers	Pancreas	Pancrea
30	chr2:134432000-134432800	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:134432000-134432800	Active TSS	Stomach Smooth Muscle	stomach
32	chr2:134432000-134432800	Flanking Active TSS	HMEC	breast
33	chr2:134432000-134433000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:134432000-134433000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:134432000-134433000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:134432000-134433000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:134432000-134433000	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:134432000-134433000	Active TSS	Brain Substantia Nigra	brain
39	chr2:134432000-134433000	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr2:134432000-134433000	Flanking Active TSS	NHEK	skin
41	chr2:134432000-134433200	Enhancers	Fetal Intestine Large	intestine
42	chr2:134432000-134434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:134432200-134432800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:134432200-134432800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:134432200-134432800	Active TSS	Psoas Muscle	Psoas
46	chr2:134432200-134432800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:134432200-134432800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:134432200-134432800	Flanking Active TSS	HSMM	muscle
49	chr2:134432200-134433000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:134432200-134433000	Active TSS	Cortex derived primary cultured neurospheres	brain

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