Variant report

Variant	rs2148242
Chromosome Location	chr13:48572732-48572733
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	chr13:48571301..48573014-chr13:48573686..48575345,2	MCF-7	breast:
2	chr13:48572405..48574497-chr13:48807171..48809286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11838539	0.82[EUR][1000 genomes]
rs12427516	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12427964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428055	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12428102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12429099	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12429348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12430076	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12430172	0.85[AMR][1000 genomes]
rs12431057	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431130	0.82[EUR][1000 genomes]
rs1968029	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094191	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182377	0.94[ASN][1000 genomes]
rs2897496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710390	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57698455	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57957392	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58316588	0.82[EUR][1000 genomes]
rs58634823	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61585711	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002322	0.94[ASN][1000 genomes]
rs840430	0.94[ASN][1000 genomes]
rs9534910	0.94[ASN][1000 genomes]
rs9534936	0.81[ASN][1000 genomes]
rs9567962	0.82[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
3	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
4	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
5	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
8	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
12	chr13:48548000-48574200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:48548800-48574400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:48550800-48574200	Weak transcription	Ovary	ovary
15	chr13:48551000-48573800	Weak transcription	Fetal Heart	heart
16	chr13:48551000-48574400	Weak transcription	HSMMtube	muscle
17	chr13:48552000-48574000	Weak transcription	A549	lung
18	chr13:48558000-48573200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:48559800-48574200	Weak transcription	Brain Anterior Caudate	brain
20	chr13:48560000-48574000	Weak transcription	Fetal Kidney	kidney
21	chr13:48560800-48573400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:48560800-48574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:48561200-48573200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:48561200-48574200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:48561400-48573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:48561600-48574200	Weak transcription	Osteobl	bone
27	chr13:48562600-48573000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:48563800-48574200	Weak transcription	Fetal Brain Male	brain
29	chr13:48565400-48574800	Weak transcription	Gastric	stomach
30	chr13:48565600-48574000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:48565600-48574200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:48565600-48574200	Weak transcription	Fetal Brain Female	brain
33	chr13:48565600-48574400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr13:48565600-48574400	Weak transcription	Right Ventricle	heart
35	chr13:48565800-48574200	Weak transcription	HMEC	breast
36	chr13:48566400-48572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:48566800-48574200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr13:48567400-48573800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr13:48567400-48574800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:48567600-48574000	Weak transcription	Primary B cells from cord blood	blood
41	chr13:48567800-48572800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:48567800-48573000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:48567800-48573800	Weak transcription	HUVEC	blood vessel
44	chr13:48567800-48574000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:48567800-48574000	Weak transcription	Fetal Lung	lung
46	chr13:48567800-48574000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:48567800-48574200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:48567800-48574200	Weak transcription	Brain Germinal Matrix	brain
49	chr13:48567800-48574200	Weak transcription	NHLF	lung
50	chr13:48567800-48574400	Weak transcription	Esophagus	oesophagus

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