Variant report

Variant	rs2344611
Chromosome Location	chr2:233581937-233581938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233562621..233564788-chr2:233579280..233582063,2	K562	blood:
2	chr2:233574220..233576643-chr2:233581660..233584341,2	MCF-7	breast:
3	chr2:233565184..233567187-chr2:233578536..233582412,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1022329	0.87[EUR][1000 genomes]
rs10427328	0.87[EUR][1000 genomes]
rs1078323	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10933406	0.85[EUR][1000 genomes]
rs1104764	0.83[EUR][1000 genomes]
rs11688166	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689851	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11893358	0.83[EUR][1000 genomes]
rs12105766	0.86[EUR][1000 genomes]
rs12993791	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12999865	0.83[EUR][1000 genomes]
rs13001052	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13021823	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17164	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1973675	0.83[EUR][1000 genomes]
rs2293780	0.83[EUR][1000 genomes]
rs2344613	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2592104	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs283465	0.86[EUR][1000 genomes]
rs283467	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs283487	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34707169	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35491427	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4144795	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144797	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62193269	0.82[EUR][1000 genomes]
rs62193271	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6704763	0.87[EUR][1000 genomes]
rs6710294	0.88[EUR][1000 genomes]
rs6716488	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6717048	0.88[EUR][1000 genomes]
rs6733495	0.86[EUR][1000 genomes]
rs6739794	0.87[EUR][1000 genomes]
rs737027	0.83[EUR][1000 genomes]
rs921055	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs974321	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 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	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:233564000-233589000	Weak transcription	NH-A	brain
3	chr2:233564200-233596400	Weak transcription	NHLF	lung
4	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
7	chr2:233565200-233589800	Weak transcription	HMEC	breast
8	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
9	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
10	chr2:233565400-233589800	Weak transcription	Hela-S3	cervix
11	chr2:233565400-233590000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:233566000-233584600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
15	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:233568200-233583800	Strong transcription	HepG2	liver
17	chr2:233568200-233585400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:233568400-233585000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:233569000-233582000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:233569000-233585600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:233569200-233589000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:233569200-233590000	Weak transcription	NHDF-Ad	bronchial
23	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
24	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:233570600-233593400	Weak transcription	Aorta	Aorta
27	chr2:233570800-233582400	Weak transcription	Spleen	Spleen
28	chr2:233571200-233582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:233571200-233593600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
31	chr2:233571200-233627400	Weak transcription	Gastric	stomach
32	chr2:233571400-233582400	Weak transcription	Left Ventricle	heart
33	chr2:233571400-233585600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:233571400-233588600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
36	chr2:233571600-233585600	Weak transcription	Right Ventricle	heart
37	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:233572200-233585600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:233572200-233589000	Weak transcription	Osteobl	bone
40	chr2:233572200-233589800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:233572200-233589800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:233572200-233591600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:233572200-233593200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:233572400-233582000	Weak transcription	HSMMtube	muscle
45	chr2:233572400-233585600	Weak transcription	K562	blood
46	chr2:233572400-233585800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:233572400-233586800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:233573600-233589800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:233573800-233588600	Weak transcription	Lung	lung
50	chr2:233574000-233585600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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