Variant report

Variant	rs73936949
Chromosome Location	chr2:55397092-55397093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55240924..55243759-chr2:55395356..55397522,2	K562	blood:
2	chr2:55396152..55398981-chr2:55400829..55403298,2	MCF-7	breast:
3	chr2:55396231..55398049-chr2:55458251..55460461,2	K562	blood:
4	chr2:55273899..55278013-chr2:55394987..55400290,7	K562	blood:
5	chr2:55251918..55254652-chr2:55395890..55398049,2	K562	blood:
6	chr2:55254227..55256679-chr2:55395838..55397468,2	K562	blood:
7	chr2:55396357..55398246-chr2:55402197..55406122,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000200086	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10209298	1.00[EUR][1000 genomes]
rs11886358	1.00[EUR][1000 genomes]
rs11887112	1.00[EUR][1000 genomes]
rs11889466	1.00[EUR][1000 genomes]
rs11890896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896438	1.00[EUR][1000 genomes]
rs11902622	1.00[EUR][1000 genomes]
rs17046771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046787	0.91[AMR][1000 genomes]
rs2972077	1.00[EUR][1000 genomes]
rs55726603	0.91[AMR][1000 genomes]
rs55735105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56219595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56887573	0.91[AMR][1000 genomes]
rs56902676	0.91[AMR][1000 genomes]
rs57489147	0.91[AMR][1000 genomes]
rs57517202	0.91[AMR][1000 genomes]
rs58016152	1.00[EUR][1000 genomes]
rs58207828	0.91[AMR][1000 genomes]
rs58485503	0.91[AMR][1000 genomes]
rs60944260	1.00[EUR][1000 genomes]
rs61197615	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721728	0.91[AMR][1000 genomes]
rs6723598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936831	1.00[EUR][1000 genomes]
rs73936834	1.00[EUR][1000 genomes]
rs73936837	1.00[EUR][1000 genomes]
rs73936845	1.00[EUR][1000 genomes]
rs73936947	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73936959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936964	0.91[AMR][1000 genomes]
rs7596403	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7608709	0.91[AMR][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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55386800-55416600	Weak transcription	Esophagus	oesophagus
2	chr2:55389200-55397400	Enhancers	NHLF	lung
3	chr2:55392000-55397400	Enhancers	HSMM	muscle
4	chr2:55392800-55400400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:55393000-55404000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:55393000-55422000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:55394000-55419000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:55395200-55397200	Enhancers	NH-A	brain
9	chr2:55395200-55400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:55395400-55397200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:55395400-55397200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:55395400-55397400	Enhancers	Brain Substantia Nigra	brain
13	chr2:55395400-55398400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:55395400-55400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:55395600-55397400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:55395600-55397400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:55395600-55399400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:55395600-55399400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:55395600-55400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:55395600-55400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:55395600-55400600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:55395600-55412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:55395600-55422800	Weak transcription	Ovary	ovary
24	chr2:55395600-55427000	Weak transcription	Left Ventricle	heart
25	chr2:55395800-55397200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:55395800-55397200	Weak transcription	Stomach Mucosa	stomach
27	chr2:55395800-55397400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:55395800-55397400	Enhancers	HSMMtube	muscle
29	chr2:55395800-55397400	Enhancers	Osteobl	bone
30	chr2:55395800-55398600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:55395800-55400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:55395800-55400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:55395800-55400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:55395800-55400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:55395800-55400600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:55395800-55400600	Weak transcription	Fetal Kidney	kidney
37	chr2:55395800-55402400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:55395800-55403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:55395800-55403000	Weak transcription	Fetal Brain Male	brain
40	chr2:55395800-55418200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:55395800-55418400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:55395800-55427000	Weak transcription	Aorta	Aorta
43	chr2:55396000-55400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:55396200-55397200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:55396200-55400200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:55396200-55402600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:55396200-55407400	Weak transcription	HepG2	liver
48	chr2:55396400-55398000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:55396400-55400800	Weak transcription	Fetal Lung	lung
50	chr2:55396400-55402600	Weak transcription	Colon Smooth Muscle	Colon

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