Variant report

Variant	rs62096500
Chromosome Location	chr18:43676393-43676394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
2	chr18:43669796..43671297-chr18:43673823..43676678,2	K562	blood:
3	chr18:43673243..43676492-chr18:43676741..43681427,5	K562	blood:
4	chr18:43671600..43674875-chr18:43675841..43678916,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAUS1-1	chr18:43676293-43678434	NONHSAT059127

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction
ENSG00000152240	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11082509	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11082510	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11659357	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11659478	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11659795	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661945	0.90[EUR][1000 genomes]
rs11664764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872954	0.92[EUR][1000 genomes]
rs11872985	0.92[EUR][1000 genomes]
rs11874712	0.93[EUR][1000 genomes]
rs12954944	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381709	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800637	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800639	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800640	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298787	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457840	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28504655	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532950	0.85[EUR][1000 genomes]
rs28699609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757346	0.85[EUR][1000 genomes]
rs34907121	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35507656	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3765636	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56075249	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56181324	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71364522	0.85[EUR][1000 genomes]
rs7230064	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7235373	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7244921	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8083998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8085444	0.90[EUR][1000 genomes]
rs8085743	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8088881	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091452	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8092674	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093880	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095031	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097521	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304326	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304327	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304328	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9304330	0.83[EUR][1000 genomes]
rs9783884	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9783887	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9783888	0.90[EUR][1000 genomes]
rs9944637	0.90[EUR][1000 genomes]
rs9945606	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9947908	0.89[EUR][1000 genomes]
rs9954278	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9961065	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9962380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962458	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr18:43657800-43676600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:43670000-43676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:43670000-43676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:43670400-43677200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:43670600-43676800	Weak transcription	Stomach Mucosa	stomach
6	chr18:43671800-43676600	Weak transcription	Fetal Kidney	kidney
7	chr18:43671800-43676600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:43671800-43676600	Weak transcription	NHLF	lung
9	chr18:43672000-43676400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr18:43672000-43676400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:43672200-43676400	Weak transcription	HSMMtube	muscle
12	chr18:43673200-43676600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr18:43673400-43676400	Weak transcription	Primary B cells from cord blood	blood
14	chr18:43673600-43676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43673800-43676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:43673800-43676600	Weak transcription	Colonic Mucosa	Colon
17	chr18:43673800-43676600	Weak transcription	Lung	lung
18	chr18:43673800-43676600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:43673800-43676600	Weak transcription	Spleen	Spleen
20	chr18:43674000-43676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:43674000-43677000	Enhancers	Fetal Brain Male	brain
22	chr18:43674400-43676600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:43674400-43676600	Weak transcription	Gastric	stomach
24	chr18:43674600-43676400	Enhancers	Brain Cingulate Gyrus	brain
25	chr18:43674600-43676600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:43674600-43678800	Active TSS	Right Atrium	heart
27	chr18:43674800-43676600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:43674800-43676800	Enhancers	Brain Substantia Nigra	brain
29	chr18:43675000-43676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:43675000-43676400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:43675000-43676400	Enhancers	Primary T cells from cord blood	blood
32	chr18:43675000-43676400	Enhancers	Brain Hippocampus Middle	brain
33	chr18:43675000-43676400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr18:43675000-43676400	Enhancers	Rectal Smooth Muscle	rectum
35	chr18:43675000-43676600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr18:43675200-43676400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr18:43675200-43676400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr18:43675200-43676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr18:43675200-43676400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr18:43675200-43676400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr18:43675200-43676400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:43675200-43676400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:43675200-43676400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr18:43675200-43676400	Weak transcription	HSMM	muscle
45	chr18:43675200-43676600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:43675200-43676600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr18:43675200-43676600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:43675200-43676600	Enhancers	Adipose Nuclei	Adipose
49	chr18:43675200-43676600	Enhancers	Liver	Liver
50	chr18:43675200-43676600	Enhancers	Thymus	Thymus

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