Variant report

Variant	rs73979023
Chromosome Location	chr2:190530438-190530439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190529439..190532405-chr2:190545827..190547782,2	MCF-7	breast:
2	chr2:190525922..190529074-chr2:190530082..190533259,4	K562	blood:
3	chr2:190526059..190528358-chr2:190528591..190531443,4	MCF-7	breast:
4	chr2:190528985..190530799-chr2:190560086..190562548,2	K562	blood:

Variant related genes	Relation type
ENSG00000151687	Chromatin interaction
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12053254	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12614807	0.90[ASN][1000 genomes]
rs12618262	0.83[EUR][1000 genomes]
rs12620204	0.90[ASN][1000 genomes]
rs3828267	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643578	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4667304	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4920657	0.83[EUR][1000 genomes]
rs5743030	0.89[EUR][1000 genomes]
rs5743044	0.86[EUR][1000 genomes]
rs5743100	0.83[EUR][1000 genomes]
rs5743112	0.83[EUR][1000 genomes]
rs5743116	0.83[EUR][1000 genomes]
rs5743117	0.83[EUR][1000 genomes]
rs6434358	0.90[ASN][1000 genomes]
rs6434360	0.87[ASN][1000 genomes]
rs6718862	0.90[ASN][1000 genomes]
rs73979024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527000-190534800	Weak transcription	Lung	lung
2	chr2:190527400-190530800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:190527400-190530800	Weak transcription	NHLF	lung
4	chr2:190527400-190531200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:190527400-190531600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:190527400-190532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:190527400-190532200	Weak transcription	Left Ventricle	heart
8	chr2:190527400-190533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:190527400-190533600	Weak transcription	K562	blood
10	chr2:190527400-190537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
12	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
13	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
14	chr2:190527400-190538600	Weak transcription	Gastric	stomach
15	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:190527600-190530600	Weak transcription	Fetal Kidney	kidney
17	chr2:190527600-190530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:190527600-190530800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:190527600-190530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:190527600-190531000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:190527600-190532000	Weak transcription	Aorta	Aorta
22	chr2:190527600-190532600	Weak transcription	Colonic Mucosa	Colon
23	chr2:190527600-190532600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:190527600-190532800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
27	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
28	chr2:190527800-190530600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:190527800-190530600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:190527800-190530600	Weak transcription	Fetal Lung	lung
31	chr2:190527800-190530600	Weak transcription	HMEC	breast
32	chr2:190527800-190530600	Weak transcription	Osteobl	bone
33	chr2:190527800-190530800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:190527800-190531000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:190527800-190531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:190527800-190531000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:190527800-190531200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:190527800-190531200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:190527800-190531200	Weak transcription	HSMMtube	muscle
40	chr2:190527800-190531400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:190527800-190531400	Weak transcription	A549	lung
42	chr2:190527800-190531600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:190527800-190531800	Weak transcription	Thymus	Thymus
44	chr2:190527800-190532200	Weak transcription	NHEK	skin
45	chr2:190527800-190532800	Weak transcription	Brain Substantia Nigra	brain
46	chr2:190527800-190533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
49	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:190528000-190531600	Weak transcription	Brain Inferior Temporal Lobe	brain

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