Variant report

Variant	rs2431357
Chromosome Location	chr5:75934133-75934134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75903037..75905690-chr5:75932365..75935110,2	K562	blood:
2	chr5:75926553..75929296-chr5:75932910..75934652,2	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction
ENSG00000249713	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10035308	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10037254	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10042932	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13173162	0.81[EUR][1000 genomes]
rs1697844	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1697845	0.80[ASN][1000 genomes]
rs2431349	0.80[ASN][1000 genomes]
rs2431350	0.80[ASN][1000 genomes]
rs2431351	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2431353	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2431354	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2431355	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2431360	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432180	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432183	0.97[AFR][1000 genomes]
rs2432192	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455221	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2455222	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455223	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455224	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455225	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455227	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455228	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455230	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455231	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2455232	0.81[ASN][1000 genomes]
rs2909889	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909891	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910819	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2937415	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs372390	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs395661	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs410262	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs416451	0.80[ASN][1000 genomes]
rs428121	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs429071	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431160	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs441157	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457233	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457717	0.80[ASN][1000 genomes]
rs465959	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6867296	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1031881	chr5:75917033-75946265	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1017025	chr5:75926278-75946265	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
2	chr5:75903800-75936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
4	chr5:75907800-75934600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:75913400-75934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:75914200-75953800	Weak transcription	Colonic Mucosa	Colon
7	chr5:75918000-75943400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:75918200-75943600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:75919200-75943600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:75919200-75955400	Weak transcription	Fetal Kidney	kidney
11	chr5:75919400-75938200	Weak transcription	Pancreas	Pancrea
12	chr5:75919400-75944200	Weak transcription	Fetal Lung	lung
13	chr5:75921600-75938000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:75922800-75938000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:75923000-75938000	Weak transcription	Gastric	stomach
16	chr5:75923000-75938400	Weak transcription	Fetal Thymus	thymus
17	chr5:75923000-75944400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:75923400-75936200	Weak transcription	Fetal Stomach	stomach
19	chr5:75923600-75934400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:75924200-75943600	Weak transcription	Ovary	ovary
21	chr5:75924800-75936200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:75926200-75938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:75926200-75943800	Strong transcription	Primary T cells from cord blood	blood
24	chr5:75926600-75934200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:75928400-75937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:75929400-75943800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:75929800-75934400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:75929800-75938000	Weak transcription	NH-A	brain
29	chr5:75929800-75943800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:75929800-75945400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:75930400-75944400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:75931400-75935000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:75931400-75943800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:75931600-75943600	Weak transcription	Lung	lung
35	chr5:75932200-75936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:75932200-75945400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:75932600-75938000	Weak transcription	NHLF	lung
38	chr5:75932800-75935200	Strong transcription	Placenta	Placenta
39	chr5:75932800-75937600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:75932800-75938000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:75933200-75934200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:75933200-75934200	Enhancers	Liver	Liver
43	chr5:75933200-75937000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:75933200-75938000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:75933400-75934400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:75933400-75935000	Genic enhancers	Primary hematopoietic stem cells	blood
47	chr5:75933400-75935400	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:75933400-75935600	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:75933600-75934200	Enhancers	GM12878-XiMat	blood
50	chr5:75933600-75934600	Enhancers	Pancreatic Islets	Pancreatic Islet

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