Variant report

Variant	rs13396293
Chromosome Location	chr2:233573453-233573454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233564546..233567333-chr2:233571993..233574146,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10190211	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10209575	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10933407	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10933408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11679581	0.90[EUR][1000 genomes]
rs11685169	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11687379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11688622	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688691	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694434	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11695762	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12052869	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12694915	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12694916	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13386650	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13412034	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13412513	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13425525	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13429857	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1446307	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289914	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289915	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2293782	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2305139	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34063802	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34832091	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35778045	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35785837	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35928329	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41266951	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56054779	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62193305	0.90[EUR][1000 genomes]
rs6747479	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005582	0.90[EUR][1000 genomes]
rs7557131	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7564554	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9288675	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9288676	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9808146	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9973586	0.86[AMR][1000 genomes];0.99[EUR][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	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:233564000-233589000	Weak transcription	NH-A	brain
4	chr2:233564200-233596400	Weak transcription	NHLF	lung
5	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
8	chr2:233565200-233573800	Weak transcription	NHEK	skin
9	chr2:233565200-233589800	Weak transcription	HMEC	breast
10	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
11	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
12	chr2:233565400-233580200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:233565400-233589800	Weak transcription	Hela-S3	cervix
14	chr2:233565400-233590000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:233566000-233576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:233566000-233576000	Strong transcription	Fetal Stomach	stomach
18	chr2:233566000-233577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:233566000-233578400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:233566000-233584600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:233566200-233574200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:233566200-233576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
24	chr2:233567200-233574200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:233567200-233574200	Strong transcription	Fetal Thymus	thymus
26	chr2:233567400-233576800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:233567600-233577800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:233567800-233573800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:233567800-233574000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:233567800-233575800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:233568200-233573600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:233568200-233573800	Strong transcription	Primary T cells from cord blood	blood
34	chr2:233568200-233574200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:233568200-233575400	Strong transcription	Liver	Liver
36	chr2:233568200-233575600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:233568200-233577400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:233568200-233583800	Strong transcription	HepG2	liver
39	chr2:233568200-233585400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:233568400-233576000	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:233568400-233576000	Strong transcription	Thymus	Thymus
42	chr2:233568400-233576800	Strong transcription	Placenta	Placenta
43	chr2:233568400-233578000	Strong transcription	Fetal Intestine Large	intestine
44	chr2:233568400-233585000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:233568600-233573800	Strong transcription	Lung	lung
46	chr2:233568600-233574400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:233568600-233575400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:233568600-233575800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:233568800-233575800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:233569000-233575400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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