Variant report

Variant	rs2338756
Chromosome Location	chr17:37419220-37419221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10221223	0.81[ASN][1000 genomes]
rs10432030	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10432031	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10491129	0.86[ASN][1000 genomes]
rs11078893	0.81[ASN][1000 genomes]
rs11078896	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11078897	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1966915	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1966916	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2024073	0.86[ASN][1000 genomes]
rs2061338	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2061342	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2100651	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2168785	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2338755	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2338795	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2338800	0.81[ASN][1000 genomes]
rs2338801	0.80[ASN][1000 genomes]
rs33933929	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34473775	0.82[ASN][1000 genomes]
rs3744348	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3964723	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4325601	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4375688	0.80[ASN][1000 genomes]
rs4795355	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55689507	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs583980	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs585961	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs587343	0.86[ASN][1000 genomes]
rs588193	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs593480	0.86[ASN][1000 genomes]
rs600010	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs602282	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs602688	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs612209	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs620686	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62074994	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs632202	0.86[ASN][1000 genomes]
rs632606	0.83[ASN][1000 genomes]
rs634365	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs638201	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs644173	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs650106	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6503502	0.81[ASN][1000 genomes]
rs677888	0.86[ASN][1000 genomes]
rs679995	0.86[ASN][1000 genomes]
rs683948	0.86[ASN][1000 genomes]
rs7215889	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7218670	0.81[ASN][1000 genomes]
rs7220650	0.81[ASN][1000 genomes]
rs7223331	0.81[ASN][1000 genomes]
rs752314	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs755500	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs801419	0.86[ASN][1000 genomes]
rs801420	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs801426	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8066704	0.81[ASN][1000 genomes]
rs8067302	0.81[ASN][1000 genomes]
rs8067948	0.81[ASN][1000 genomes]
rs8070695	0.81[ASN][1000 genomes]
rs8079355	0.83[ASN][1000 genomes]
rs8079560	0.81[ASN][1000 genomes]
rs8079590	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8079662	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8081033	0.80[ASN][1000 genomes]
rs8081220	0.86[ASN][1000 genomes]
rs8081338	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9747342	0.86[ASN][1000 genomes]
rs9894586	0.81[ASN][1000 genomes]
rs9894864	0.80[ASN][1000 genomes]
rs9903363	0.81[ASN][1000 genomes]
rs9904334	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9905617	0.81[ASN][1000 genomes]
rs9908760	0.81[ASN][1000 genomes]
rs9909064	0.81[ASN][1000 genomes]
rs9913320	0.84[ASN][1000 genomes]
rs9944411	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2338756	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs2338756	PGAP3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37401000-37426000	Weak transcription	NHLF	lung
2	chr17:37401000-37433000	Weak transcription	Fetal Heart	heart
3	chr17:37401000-37437000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:37401400-37437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:37405000-37437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:37406800-37425400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:37407200-37439200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:37407600-37427400	Strong transcription	Placenta	Placenta
9	chr17:37407800-37431400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:37408000-37425400	Strong transcription	Fetal Lung	lung
11	chr17:37408000-37427200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:37408000-37440200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:37408000-37441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
15	chr17:37408200-37427200	Strong transcription	Primary T cells from cord blood	blood
16	chr17:37408200-37442400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:37408400-37437400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:37409000-37419600	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:37409000-37422000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr17:37409000-37426800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:37409000-37432800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:37409000-37438800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr17:37409200-37419400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr17:37409200-37431600	Strong transcription	Fetal Thymus	thymus
25	chr17:37409400-37437400	Weak transcription	HUVEC	blood vessel
26	chr17:37409800-37437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:37410000-37437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:37410400-37420600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:37411000-37421200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:37411600-37437400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr17:37412000-37421800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:37412000-37422200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:37412200-37427400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:37412800-37422400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr17:37412800-37427000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:37413200-37422600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr17:37413400-37420800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr17:37413600-37421000	Strong transcription	Fetal Brain Female	brain
40	chr17:37413600-37422400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr17:37413600-37431600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:37413800-37420800	Strong transcription	Thymus	Thymus
43	chr17:37413800-37421000	Strong transcription	Dnd41	blood
44	chr17:37413800-37423000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:37413800-37423400	Strong transcription	Fetal Intestine Large	intestine
46	chr17:37413800-37426600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:37414000-37421400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr17:37414000-37425400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr17:37414000-37427000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:37414200-37422400	Strong transcription	Rectal Mucosa Donor 31	rectum

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