Variant report

Variant	rs3805536
Chromosome Location	chr5:146783656-146783657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10052013	0.90[EUR][1000 genomes]
rs10059782	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs11738683	0.96[CEU][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12655364	0.96[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1432836	0.96[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap]
rs17106658	0.90[EUR][1000 genomes]
rs1864962	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2288804	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2288806	1.00[CEU][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2288807	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2304045	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2304046	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3213856	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3816013	0.92[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs4705168	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4705169	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6887761	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6892646	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7725904	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146762800-146784200	Weak transcription	Colonic Mucosa	Colon
2	chr5:146767800-146796600	Strong transcription	Brain Germinal Matrix	brain
3	chr5:146768000-146784000	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:146769400-146800600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:146770000-146800600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr5:146770200-146784800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:146770400-146796600	Strong transcription	Fetal Brain Female	brain
11	chr5:146770400-146800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:146770600-146798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:146770600-146800400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:146771600-146786600	Weak transcription	Gastric	stomach
15	chr5:146772400-146783800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:146772800-146795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:146773400-146784000	Weak transcription	Fetal Brain Male	brain
18	chr5:146773600-146788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:146773600-146800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:146774000-146799400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:146774200-146796800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:146774600-146784200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:146775400-146797000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:146776200-146796000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:146777600-146796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:146777600-146800600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr5:146777800-146790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:146778800-146785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:146779800-146798400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:146780200-146784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:146780400-146796800	Weak transcription	Spleen	Spleen
32	chr5:146780600-146784000	Weak transcription	Brain Anterior Caudate	brain
33	chr5:146780800-146796600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr5:146781200-146784200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:146781200-146784200	Weak transcription	Fetal Intestine Small	intestine
36	chr5:146781400-146784000	Weak transcription	Fetal Intestine Large	intestine
37	chr5:146781400-146784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:146781400-146784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:146782400-146784800	Enhancers	Aorta	Aorta
40	chr5:146782400-146784800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr5:146782400-146790600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:146782600-146784200	Enhancers	NH-A	brain
43	chr5:146782600-146784400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:146782600-146784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:146782600-146785400	Enhancers	HUVEC	blood vessel
46	chr5:146782800-146783800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:146782800-146783800	Flanking Active TSS	NHLF	lung
48	chr5:146782800-146784000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr5:146782800-146784400	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:146782800-146791800	Enhancers	Fetal Heart	heart

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