Variant report

Variant	rs301903
Chromosome Location	chr5:37113374-37113375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37112874..37116886-chr5:37117758..37121364,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10037834	0.82[EUR][1000 genomes]
rs10043395	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10052880	0.82[ASN][1000 genomes]
rs10056009	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10057270	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10068328	0.82[ASN][1000 genomes]
rs10068501	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10069109	0.89[EUR][1000 genomes]
rs10072064	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10072288	0.85[EUR][1000 genomes]
rs10076911	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10805625	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10941320	0.88[EUR][1000 genomes]
rs10941322	0.85[ASN][1000 genomes]
rs11958752	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12110010	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12110069	0.89[EUR][1000 genomes]
rs12186733	0.82[EUR][1000 genomes]
rs12515518	0.82[ASN][1000 genomes]
rs12515522	0.82[ASN][1000 genomes]
rs12515577	0.82[ASN][1000 genomes]
rs16903466	0.82[EUR][1000 genomes]
rs16903526	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2365910	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2365912	0.84[EUR][1000 genomes]
rs301861	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301862	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301864	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs301866	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301868	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301870	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301871	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301876	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301877	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301890	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301891	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301892	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301893	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301894	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301895	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301902	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301904	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301907	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301910	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301911	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301914	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301915	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301916	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6859227	0.82[ASN][1000 genomes]
rs6897283	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73750950	0.86[EUR][1000 genomes]
rs7712984	0.82[ASN][1000 genomes]
rs7724454	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9292649	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37087200-37113600	Weak transcription	NH-A	brain
3	chr5:37101200-37115000	Weak transcription	A549	lung
4	chr5:37101400-37113400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:37102200-37114400	Weak transcription	HMEC	breast
6	chr5:37102600-37115800	Strong transcription	HSMM	muscle
7	chr5:37102600-37121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:37102800-37114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:37103600-37115800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:37103600-37135400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:37103800-37113600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:37104800-37113400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:37105200-37119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:37105400-37113400	Weak transcription	Fetal Kidney	kidney
16	chr5:37105400-37114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:37105400-37114800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:37105400-37120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:37105400-37136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:37105800-37156200	Weak transcription	NHLF	lung
21	chr5:37106000-37143400	Weak transcription	HepG2	liver
22	chr5:37106200-37150200	Weak transcription	NHEK	skin
23	chr5:37107000-37115400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:37107000-37122000	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:37107000-37122600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:37108200-37117800	Weak transcription	Esophagus	oesophagus
27	chr5:37108200-37143800	Weak transcription	Gastric	stomach
28	chr5:37108600-37113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:37108600-37113400	Weak transcription	Ovary	ovary
30	chr5:37108600-37113600	Weak transcription	Primary B cells from cord blood	blood
31	chr5:37108600-37117000	Weak transcription	Pancreas	Pancrea
32	chr5:37108600-37126400	Weak transcription	Lung	lung
33	chr5:37108600-37128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart
35	chr5:37109000-37114400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:37109200-37117800	Weak transcription	Colonic Mucosa	Colon
37	chr5:37109400-37113400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:37109400-37113800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr5:37109400-37114200	Weak transcription	NHDF-Ad	bronchial
40	chr5:37109600-37136400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:37109600-37137800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:37110000-37118600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:37110400-37125800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:37110800-37113400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:37110800-37120400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:37111200-37115600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:37111400-37113600	Strong transcription	Psoas Muscle	Psoas
48	chr5:37111400-37121800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:37111400-37122200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:37111600-37113800	Strong transcription	Fetal Brain Male	brain

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