Variant report

Variant	rs9912310
Chromosome Location	chr17:37503010-37503011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10221223	0.87[ASN][1000 genomes]
rs10491128	0.80[ASN][1000 genomes]
rs10491129	0.81[ASN][1000 genomes]
rs11078894	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078895	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078898	0.82[ASN][1000 genomes]
rs11078899	0.81[EUR][1000 genomes]
rs11655972	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11869109	0.80[ASN][1000 genomes]
rs11869259	0.80[ASN][1000 genomes]
rs11869323	0.82[ASN][1000 genomes]
rs11871813	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12150047	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12449852	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12600751	0.80[ASN][1000 genomes]
rs12938099	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12941418	0.80[EUR][1000 genomes]
rs12950186	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13341996	0.82[ASN][1000 genomes]
rs1971663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024073	0.81[ASN][1000 genomes]
rs2302073	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2338797	0.80[ASN][1000 genomes]
rs2338798	0.82[ASN][1000 genomes]
rs2338799	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2338800	0.87[ASN][1000 genomes]
rs2338801	0.84[ASN][1000 genomes]
rs28482878	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879258	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2879259	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28799952	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34432983	0.80[ASN][1000 genomes]
rs35285898	0.80[ASN][1000 genomes]
rs35546703	0.81[ASN][1000 genomes]
rs3744349	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4287601	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4511574	0.82[ASN][1000 genomes]
rs4516267	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4794807	0.82[ASN][1000 genomes]
rs4794808	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4795356	0.81[ASN][1000 genomes]
rs4795358	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795367	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57399933	0.82[ASN][1000 genomes]
rs57933226	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs582088	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs582176	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs584377	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585961	0.81[ASN][1000 genomes]
rs587343	0.81[ASN][1000 genomes]
rs587880	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs588193	0.81[ASN][1000 genomes]
rs590051	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs593480	0.81[ASN][1000 genomes]
rs594794	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597069	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs602688	0.81[ASN][1000 genomes]
rs612209	0.84[ASN][1000 genomes]
rs620686	0.81[ASN][1000 genomes]
rs632202	0.81[ASN][1000 genomes]
rs638201	0.81[ASN][1000 genomes]
rs649180	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs650106	0.81[ASN][1000 genomes]
rs6503500	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503502	0.87[ASN][1000 genomes]
rs6503503	0.84[ASN][1000 genomes]
rs6503504	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6503506	0.82[ASN][1000 genomes]
rs6503507	0.82[ASN][1000 genomes]
rs651827	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs665413	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs667193	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs667239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs677888	0.81[ASN][1000 genomes]
rs679995	0.81[ASN][1000 genomes]
rs68178216	0.82[ASN][1000 genomes]
rs683948	0.81[ASN][1000 genomes]
rs7208252	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7208274	0.84[ASN][1000 genomes]
rs7208487	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7208714	0.83[ASN][1000 genomes]
rs7210488	0.83[ASN][1000 genomes]
rs7212621	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215983	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7218074	0.83[ASN][1000 genomes]
rs7218484	0.86[ASN][1000 genomes]
rs7218670	0.87[ASN][1000 genomes]
rs7220650	0.87[ASN][1000 genomes]
rs7221117	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221875	0.83[ASN][1000 genomes]
rs7223331	0.87[ASN][1000 genomes]
rs7223438	0.82[ASN][1000 genomes]
rs73293051	0.80[ASN][1000 genomes]
rs7359658	0.85[ASN][1000 genomes]
rs7503081	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801417	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801418	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801419	0.81[ASN][1000 genomes]
rs801420	0.81[ASN][1000 genomes]
rs801426	0.81[ASN][1000 genomes]
rs801427	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801429	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801430	0.81[ASN][1000 genomes]
rs8065879	0.82[ASN][1000 genomes]
rs8066704	0.87[ASN][1000 genomes]
rs8067302	0.87[ASN][1000 genomes]
rs8067511	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8067948	0.87[ASN][1000 genomes]
rs8068427	0.82[ASN][1000 genomes]
rs8070695	0.87[ASN][1000 genomes]
rs8071300	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8072297	0.84[ASN][1000 genomes]
rs8073511	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8073907	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8074276	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8074855	0.86[ASN][1000 genomes]
rs8076494	0.82[ASN][1000 genomes]
rs8076546	0.80[ASN][1000 genomes]
rs8077104	0.82[ASN][1000 genomes]
rs8078599	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8079303	0.82[ASN][1000 genomes]
rs8079560	0.87[ASN][1000 genomes]
rs8081033	0.86[ASN][1000 genomes]
rs8081220	0.81[ASN][1000 genomes]
rs9646419	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9747342	0.81[ASN][1000 genomes]
rs9890198	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9891892	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9892055	0.82[ASN][1000 genomes]
rs9892675	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9893735	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9894500	0.82[ASN][1000 genomes]
rs9894586	0.87[ASN][1000 genomes]
rs9894864	0.86[ASN][1000 genomes]
rs9896913	0.82[ASN][1000 genomes]
rs9898170	0.84[ASN][1000 genomes]
rs9898773	0.82[ASN][1000 genomes]
rs9899069	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9903363	0.87[ASN][1000 genomes]
rs9904334	0.81[ASN][1000 genomes]
rs9905432	0.80[ASN][1000 genomes]
rs9905617	0.87[ASN][1000 genomes]
rs9906612	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9908131	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9908760	0.87[ASN][1000 genomes]
rs9909064	0.87[ASN][1000 genomes]
rs9909304	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912212	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9916302	0.84[ASN][1000 genomes]
rs9944411	0.87[ASN][1000 genomes]
rs9944459	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	78 gene(s)	inside rSNPs	diseases
8	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
11	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
14	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9912310	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs9912310	PGAP3	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
3	chr17:37461200-37515400	Weak transcription	Lung	lung
4	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
6	chr17:37485200-37520800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:37488800-37515400	Weak transcription	Psoas Muscle	Psoas
8	chr17:37488800-37516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:37489000-37522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:37489400-37516800	Weak transcription	Aorta	Aorta
11	chr17:37491600-37520600	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:37492200-37514200	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:37492400-37508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:37492400-37514600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:37492400-37516400	Weak transcription	Brain Anterior Caudate	brain
16	chr17:37492400-37522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:37492600-37505000	Weak transcription	HepG2	liver
18	chr17:37492800-37507000	Weak transcription	A549	lung
19	chr17:37493200-37506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:37493400-37515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:37493800-37507000	Weak transcription	Small Intestine	intestine
22	chr17:37494200-37508800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:37494400-37517400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:37495200-37504200	Weak transcription	Dnd41	blood
25	chr17:37495800-37506000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:37495800-37508000	Weak transcription	Liver	Liver
27	chr17:37496000-37505600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr17:37496400-37508400	Weak transcription	Right Ventricle	heart
29	chr17:37496400-37534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:37496600-37508400	Weak transcription	Left Ventricle	heart
31	chr17:37496600-37520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:37496800-37522000	Weak transcription	Fetal Stomach	stomach
33	chr17:37498000-37504400	Weak transcription	Fetal Brain Female	brain
34	chr17:37498200-37508200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:37498200-37515400	Weak transcription	Adipose Nuclei	Adipose
36	chr17:37498200-37516400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:37498200-37516400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:37498200-37519000	Weak transcription	Placenta	Placenta
39	chr17:37498200-37520200	Weak transcription	Primary B cells from cord blood	blood
40	chr17:37498200-37534200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:37498400-37508000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr17:37498400-37508200	Weak transcription	Fetal Intestine Large	intestine
43	chr17:37498400-37508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:37498400-37508400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr17:37498400-37508400	Weak transcription	Ovary	ovary
46	chr17:37498400-37513800	Weak transcription	Brain Angular Gyrus	brain
47	chr17:37498400-37516800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:37498400-37516800	Weak transcription	Fetal Lung	lung
49	chr17:37498400-37517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:37498400-37522800	Weak transcription	Primary hematopoietic stem cells	blood

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