Variant report

Variant	rs1790330
Chromosome Location	chr11:71147825-71147826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71139536..71142433-chr11:71147657..71149469,2	K562	blood:
2	chr11:71146059..71148297-chr11:71153188..71155860,2	K562	blood:
3	chr11:71145861..71148478-chr11:71150680..71152334,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10898144	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1123007	0.84[ASN][1000 genomes]
rs12224205	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1540127	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1619577	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1629220	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1630498	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790324	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790328	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790339	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790340	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790341	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790343	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790344	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790345	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790350	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792224	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792226	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792227	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792229	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792231	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792233	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792234	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792235	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792264	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792280	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792282	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792283	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792284	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792315	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1894100	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2002064	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017686	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276358	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511010	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3794057	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4402322	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4435028	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4616066	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs736894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1790330	NADSYN1	cis	Nerve Tibial	GTEx
rs1790330	RP11-660L16.2	cis	Muscle Skeletal	GTEx
rs1790330	RP11-660L16.2	cis	Thyroid	GTEx
rs1790330	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71135000-71150600	Weak transcription	NH-A	brain
2	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
4	chr11:71140800-71154000	Weak transcription	Fetal Lung	lung
5	chr11:71140800-71154000	Weak transcription	HSMM	muscle
6	chr11:71141200-71148200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:71143000-71148200	Weak transcription	NHDF-Ad	bronchial
8	chr11:71143000-71148400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:71143000-71150600	Weak transcription	Osteobl	bone
10	chr11:71143600-71149400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
12	chr11:71144200-71152000	Weak transcription	Fetal Thymus	thymus
13	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
14	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
15	chr11:71144600-71148000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:71144600-71148400	Weak transcription	Pancreas	Pancrea
17	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:71144800-71149400	Weak transcription	Primary B cells from cord blood	blood
19	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr11:71145000-71148000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:71145000-71148800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:71145000-71149800	Weak transcription	Psoas Muscle	Psoas
26	chr11:71145000-71150800	Weak transcription	A549	lung
27	chr11:71145000-71155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:71145000-71156400	Strong transcription	Brain Germinal Matrix	brain
29	chr11:71145000-71156600	Strong transcription	Fetal Stomach	stomach
30	chr11:71145000-71157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:71145000-71157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:71145000-71157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:71145200-71148200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:71145200-71148800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:71145200-71156200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:71145200-71157000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:71145200-71157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:71145200-71157200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:71145200-71157400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:71145200-71157400	Strong transcription	HMEC	breast
43	chr11:71145200-71157800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:71145400-71148000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:71145400-71148200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:71145400-71149400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:71145400-71149600	Weak transcription	Right Atrium	heart
48	chr11:71145400-71157800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:71145400-71158000	Weak transcription	Stomach Mucosa	stomach
50	chr11:71145600-71148400	Weak transcription	K562	blood

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