Variant report

Variant	rs301873
Chromosome Location	chr5:37136998-37136999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10061157	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10073054	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10079030	0.86[EUR][1000 genomes]
rs10461977	0.85[EUR][1000 genomes]
rs10512664	0.81[ASN][1000 genomes]
rs10941321	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13166974	0.85[ASN][1000 genomes]
rs13169211	0.89[ASN][1000 genomes]
rs13171526	0.81[ASN][1000 genomes]
rs2098713	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs216380	0.85[EUR][1000 genomes]
rs216385	0.86[EUR][1000 genomes]
rs216386	0.85[EUR][1000 genomes]
rs216387	0.85[EUR][1000 genomes]
rs2366274	0.85[EUR][1000 genomes]
rs301863	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301867	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301869	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs301872	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs301874	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs301878	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301905	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs301906	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs301908	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs301909	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451313	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6860727	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6886108	0.87[EUR][1000 genomes]
rs6887958	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7711452	0.89[EUR][1000 genomes]
rs7715883	0.88[EUR][1000 genomes]
rs7729404	0.89[EUR][1000 genomes]
rs7735138	0.89[EUR][1000 genomes]
rs9632396	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37103800-37143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:37105800-37156200	Weak transcription	NHLF	lung
4	chr5:37106000-37143400	Weak transcription	HepG2	liver
5	chr5:37106200-37150200	Weak transcription	NHEK	skin
6	chr5:37108200-37143800	Weak transcription	Gastric	stomach
7	chr5:37108600-37139600	Weak transcription	Right Ventricle	heart
8	chr5:37109600-37137800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
10	chr5:37112800-37142800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:37113000-37137800	Weak transcription	HUVEC	blood vessel
12	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
13	chr5:37113800-37157000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:37114600-37165400	Weak transcription	HMEC	breast
15	chr5:37115200-37137400	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:37116200-37142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:37118600-37153600	Weak transcription	Pancreas	Pancrea
18	chr5:37122000-37137000	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:37122000-37156000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:37122200-37143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:37122800-37150800	Weak transcription	Fetal Heart	heart
22	chr5:37123400-37138200	Weak transcription	NHDF-Ad	bronchial
23	chr5:37124200-37139600	Weak transcription	HSMMtube	muscle
24	chr5:37124200-37149400	Weak transcription	NH-A	brain
25	chr5:37133000-37139000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr5:37133200-37140000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:37133200-37169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:37133600-37144000	Strong transcription	HSMM	muscle
29	chr5:37134200-37171200	Weak transcription	Colonic Mucosa	Colon
30	chr5:37135000-37138600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:37135000-37143200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:37135200-37138000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr5:37135400-37137800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:37135400-37138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:37135400-37138200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:37135400-37138200	Strong transcription	Ovary	ovary
37	chr5:37135400-37138400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr5:37135400-37138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:37135400-37138600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:37135400-37139000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:37135400-37139000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:37135400-37139200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:37135400-37140000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:37135400-37140200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:37135400-37146200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:37135600-37137200	ZNF genes & repeats	Fetal Thymus	thymus
47	chr5:37135600-37137400	Strong transcription	Thymus	Thymus
48	chr5:37135600-37137800	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr5:37135600-37138200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:37135600-37138400	ZNF genes & repeats	Primary B cells from cord blood	blood

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