Variant report

Variant	rs2343072
Chromosome Location	chr12:26269047-26269048
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26267272..26269559-chr12:26803313..26806107,3	MCF-7	breast:
2	chr12:26252565..26258898-chr12:26263969..26269269,10	MCF-7	breast:
3	chr12:26268041..26270216-chr12:26273442..26275781,2	K562	blood:

Variant related genes	Relation type
ENSG00000123096	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17365537	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2137547	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55694223	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61915685	0.83[AMR][1000 genomes]
rs61915687	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7300076	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2343072	BHLHE41	cis	brain	seeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267400-26270000	Weak transcription	Lung	lung
2	chr12:26267400-26274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:26267800-26270200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:26267800-26270600	Enhancers	K562	blood
5	chr12:26267800-26272200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:26268000-26269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26268000-26269400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:26268000-26269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:26268000-26269600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:26268000-26269600	Weak transcription	A549	lung
12	chr12:26268000-26269600	Weak transcription	HSMM	muscle
13	chr12:26268000-26269800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:26268000-26270000	Enhancers	Fetal Muscle Leg	muscle
15	chr12:26268000-26270800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr12:26268000-26272200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:26268000-26272200	Weak transcription	Aorta	Aorta
18	chr12:26268000-26272200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:26268000-26273800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:26268000-26274600	Weak transcription	Right Ventricle	heart
21	chr12:26268000-26274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
23	chr12:26268200-26269400	Weak transcription	HMEC	breast
24	chr12:26268200-26269600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr12:26268200-26269600	Weak transcription	NHEK	skin
26	chr12:26268200-26270000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:26268200-26271000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:26268200-26271600	Weak transcription	HUVEC	blood vessel
29	chr12:26268200-26272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:26268200-26272400	Weak transcription	NH-A	brain
31	chr12:26268200-26273600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:26268200-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:26268400-26269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:26268400-26269400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:26268400-26269600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:26268400-26269800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:26268400-26269800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:26268400-26269800	Weak transcription	Fetal Heart	heart
39	chr12:26268400-26271400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:26268400-26271600	Enhancers	Fetal Intestine Small	intestine
41	chr12:26268400-26272200	Weak transcription	Brain Angular Gyrus	brain
42	chr12:26268400-26272200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:26268400-26272800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:26268600-26269600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:26268600-26269600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:26268600-26269600	Weak transcription	Stomach Mucosa	stomach
47	chr12:26268600-26269600	Weak transcription	NHDF-Ad	bronchial
48	chr12:26268600-26269800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:26268600-26270000	Enhancers	Psoas Muscle	Psoas
50	chr12:26268800-26270200	Weak transcription	Rectal Mucosa Donor 31	rectum

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