Variant report

Variant	rs803501
Chromosome Location	chr5:43125111-43125112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43124778..43127199-chr5:43415095..43418069,2	K562	blood:
2	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
3	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
4	chr5:43120765..43125898-chr5:43482451..43485837,5	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1050336	1.00[AMR][1000 genomes]
rs1690989	1.00[AMR][1000 genomes]
rs1690996	1.00[AMR][1000 genomes]
rs2444778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453311	1.00[AMR][1000 genomes]
rs2548375	1.00[AMR][1000 genomes]
rs4549536	1.00[AMR][1000 genomes]
rs473870	1.00[AMR][1000 genomes]
rs481347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs482224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866731	1.00[AMR][1000 genomes]
rs500322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs500993	1.00[AMR][1000 genomes]
rs516939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534655	1.00[AMR][1000 genomes]
rs549343	1.00[AMR][1000 genomes]
rs550847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs558935	1.00[AMR][1000 genomes]
rs566582	1.00[AMR][1000 genomes]
rs623083	1.00[AMR][1000 genomes]
rs623954	1.00[AFR][1000 genomes]
rs6414901	1.00[AMR][1000 genomes]
rs661413	1.00[AMR][1000 genomes]
rs665790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6888146	1.00[AMR][1000 genomes]
rs693466	1.00[AMR][1000 genomes]
rs73090731	1.00[AMR][1000 genomes]
rs7712183	1.00[AMR][1000 genomes]
rs7727600	1.00[AMR][1000 genomes]
rs7730565	1.00[AMR][1000 genomes]
rs782973	1.00[AMR][1000 genomes]
rs782981	1.00[AMR][1000 genomes]
rs782982	1.00[AMR][1000 genomes]
rs782983	1.00[AMR][1000 genomes]
rs782986	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43126400	Weak transcription	Lung	lung
2	chr5:43122600-43126400	Weak transcription	Spleen	Spleen
3	chr5:43122600-43129200	Weak transcription	Gastric	stomach
4	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
5	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
6	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:43122800-43125200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:43122800-43126200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:43122800-43127400	Weak transcription	Ovary	ovary
11	chr5:43122800-43128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
13	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
15	chr5:43123000-43126000	Weak transcription	HSMMtube	muscle
16	chr5:43123000-43126600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:43123200-43126000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:43123400-43126200	Enhancers	Fetal Brain Male	brain
20	chr5:43123400-43127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:43123600-43125200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr5:43123800-43125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:43123800-43126200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:43123800-43126800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:43123800-43127400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:43124000-43125200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:43124000-43125200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:43124000-43127200	Weak transcription	Brain Angular Gyrus	brain
35	chr5:43124000-43128400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:43124000-43128400	Strong transcription	Fetal Lung	lung
37	chr5:43124000-43128600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:43124000-43128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:43124000-43129000	Strong transcription	NH-A	brain
40	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr5:43124000-43130600	Strong transcription	HSMM	muscle
45	chr5:43124000-43130800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
49	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
50	chr5:43124200-43125200	Weak transcription	Rectal Smooth Muscle	rectum

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