Variant report

Variant	rs10473298
Chromosome Location	chr5:43124767-43124768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10036044	1.00[AFR][1000 genomes]
rs10040001	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10043820	1.00[YRI][hapmap]
rs10044622	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10051664	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10058932	0.96[AFR][1000 genomes]
rs10072526	0.96[AFR][1000 genomes]
rs10473299	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4533896	0.82[YRI][hapmap]
rs6859504	0.82[YRI][hapmap]
rs6859969	0.82[YRI][hapmap]
rs6868271	1.00[YRI][hapmap]
rs7705935	1.00[YRI][hapmap]
rs7726407	1.00[YRI][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122400-43125000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:43122600-43126400	Weak transcription	Lung	lung
3	chr5:43122600-43126400	Weak transcription	Spleen	Spleen
4	chr5:43122600-43129200	Weak transcription	Gastric	stomach
5	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
6	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
7	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:43122800-43124800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:43122800-43125200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:43122800-43126200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:43122800-43127400	Weak transcription	Ovary	ovary
13	chr5:43122800-43128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
15	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
17	chr5:43123000-43124800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr5:43123000-43126000	Weak transcription	HSMMtube	muscle
19	chr5:43123000-43126600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:43123200-43126000	Weak transcription	Brain Substantia Nigra	brain
22	chr5:43123400-43125000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:43123400-43126200	Enhancers	Fetal Brain Male	brain
24	chr5:43123400-43127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:43123600-43125200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr5:43123800-43125000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:43123800-43125000	Genic enhancers	Thymus	Thymus
30	chr5:43123800-43125800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:43123800-43126200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:43123800-43126800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:43123800-43127400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:43124000-43125200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:43124000-43125200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:43124000-43127200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:43124000-43128400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:43124000-43128400	Strong transcription	Fetal Lung	lung
43	chr5:43124000-43128600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:43124000-43128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:43124000-43129000	Strong transcription	NH-A	brain
46	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr5:43124000-43130600	Strong transcription	HSMM	muscle

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