Variant report

Variant	rs2003317
Chromosome Location	chr10:43669190-43669191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43662445..43666919-chr10:43668804..43672479,4	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1059484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793422	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793424	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793426	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10793427	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899778	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899779	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899780	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899781	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899782	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899786	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899787	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11238476	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238479	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238481	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11238483	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11238485	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11238490	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11528481	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220534	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220560	0.90[EUR][1000 genomes]
rs12268309	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12356643	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12360493	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12416428	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1254958	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1254959	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1254960	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254962	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254963	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254965	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254968	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270015	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317214	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1800861	0.86[ASN][1000 genomes]
rs1864399	0.81[ASN][1000 genomes]
rs1864400	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1879310	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1915142	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075910	0.86[ASN][1000 genomes]
rs2075912	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2115817	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249005	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2257767	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293020	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435337	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435338	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2435339	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2435354	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435376	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2435377	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435384	1.00[ASN][1000 genomes]
rs2435385	1.00[ASN][1000 genomes]
rs2503848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503849	1.00[ASN][1000 genomes]
rs2503853	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2503860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503881	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505506	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2505511	0.94[ASN][1000 genomes]
rs2505512	0.84[ASN][1000 genomes]
rs2505514	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2505553	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505557	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2565200	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2565201	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2742233	0.86[ASN][1000 genomes]
rs2742234	0.86[ASN][1000 genomes]
rs2742235	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2742237	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2742239	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2742240	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2742241	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3004214	0.91[ASN][1000 genomes]
rs4648313	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60845448	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61268333	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61845684	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7073849	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7093409	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7096500	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7098236	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7098237	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs715106	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs741968	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs871763	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][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	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2003317	CSGALNACT2	cis	Adipose Subcutaneous	GTEx
rs2003317	CSGALNACT2	cis	Thyroid	GTEx
rs2003317	CSGALNACT2	cis	Artery Tibial	GTEx
rs2003317	CSGALNACT2	cis	Heart Left Ventricle	GTEx
rs2003317	CSGALNACT2	cis	lung	GTEx
rs2003317	CSGALNACT2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
2	chr10:43651000-43671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:43652600-43669800	Weak transcription	Right Ventricle	heart
4	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
5	chr10:43654600-43678000	Weak transcription	Hela-S3	cervix
6	chr10:43655000-43680600	Weak transcription	Colonic Mucosa	Colon
7	chr10:43655800-43673000	Weak transcription	Fetal Kidney	kidney
8	chr10:43656000-43674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:43656400-43673400	Weak transcription	Psoas Muscle	Psoas
10	chr10:43658000-43669600	Weak transcription	Liver	Liver
11	chr10:43658200-43670600	Weak transcription	Gastric	stomach
12	chr10:43658400-43669600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:43658600-43671800	Weak transcription	Placenta	Placenta
14	chr10:43658800-43690600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:43659000-43670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:43659000-43671800	Weak transcription	Fetal Intestine Large	intestine
17	chr10:43659000-43672600	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:43659200-43671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:43659400-43669800	Weak transcription	Fetal Brain Female	brain
20	chr10:43659800-43674800	Weak transcription	A549	lung
21	chr10:43660000-43671800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:43660000-43673000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:43660400-43687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:43662000-43671800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:43662000-43677000	Strong transcription	Osteobl	bone
26	chr10:43662200-43684400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:43662200-43697600	Weak transcription	NHEK	skin
28	chr10:43662600-43670600	Weak transcription	HUVEC	blood vessel
29	chr10:43662600-43690000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:43662800-43681600	Weak transcription	HMEC	breast
31	chr10:43663000-43678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:43663600-43679800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:43663600-43683800	Strong transcription	Fetal Thymus	thymus
34	chr10:43663800-43673000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:43663800-43673200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr10:43664000-43673000	Strong transcription	Primary T cells from cord blood	blood
37	chr10:43664000-43673200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr10:43664000-43679600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr10:43664000-43680400	Strong transcription	Dnd41	blood
40	chr10:43664200-43672400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:43664200-43673200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr10:43664200-43676800	Strong transcription	HSMMtube	muscle
43	chr10:43664400-43675600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:43664600-43670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:43664600-43670800	Weak transcription	Fetal Brain Male	brain
46	chr10:43664600-43674800	Weak transcription	Lung	lung
47	chr10:43664800-43669800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:43664800-43670400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:43664800-43671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:43664800-43675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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