Variant report

Variant	rs8073248
Chromosome Location	chr17:37693929-37693930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37691695..37694663-chr17:37844088..37846802,2	K562	blood:
2	chr17:37691695..37694663-chr17:37844088..37846895,3	K562	blood:
3	chr17:37618016..37620005-chr17:37693592..37695234,2	MCF-7	breast:
4	chr17:37690909..37693852-chr17:37693877..37696512,2	K562	blood:
5	chr17:37678954..37687273-chr17:37688248..37694064,9	K562	blood:
6	chr17:37691124..37694246-chr17:37695012..37698279,3	K562	blood:
7	chr17:37684932..37686565-chr17:37692207..37694506,2	K562	blood:
8	chr17:37692279..37694246-chr17:37696779..37699542,2	K562	blood:
9	chr17:37690782..37694574-chr17:37774028..37776151,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141736	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1054488	0.87[ASN][1000 genomes]
rs11657058	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11657153	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12937013	0.85[ASN][1000 genomes]
rs12942391	0.87[ASN][1000 genomes]
rs12947506	0.87[ASN][1000 genomes]
rs1874226	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1877030	0.81[ASN][1000 genomes]
rs4332770	0.87[ASN][1000 genomes]
rs439537	0.87[ASN][1000 genomes]
rs4488484	0.87[ASN][1000 genomes]
rs4591174	0.81[ASN][1000 genomes]
rs4795375	0.83[ASN][1000 genomes]
rs4795379	0.85[ASN][1000 genomes]
rs4795385	0.87[ASN][1000 genomes]
rs6503521	0.87[ASN][1000 genomes]
rs7503377	0.87[ASN][1000 genomes]
rs8069074	0.87[ASN][1000 genomes]
rs8075737	0.87[ASN][1000 genomes]
rs8081528	0.85[ASN][1000 genomes]
rs8182252	0.87[ASN][1000 genomes]
rs903507	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8073248	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs8073248	PGAP3	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37660600-37704400	Weak transcription	Stomach Mucosa	stomach
2	chr17:37675400-37704000	Weak transcription	Right Atrium	heart
3	chr17:37683000-37694600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:37683000-37695200	Weak transcription	Fetal Heart	heart
5	chr17:37683400-37694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:37683800-37695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:37683800-37703000	Weak transcription	Fetal Brain Male	brain
8	chr17:37683800-37719400	Weak transcription	Psoas Muscle	Psoas
9	chr17:37685600-37702600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:37686000-37696400	Weak transcription	Primary B cells from cord blood	blood
11	chr17:37687200-37694200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:37687400-37702800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:37687400-37704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:37687400-37706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37687600-37695800	Weak transcription	Lung	lung
16	chr17:37687800-37699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:37687800-37699600	Weak transcription	Pancreas	Pancrea
18	chr17:37687800-37699800	Weak transcription	Ovary	ovary
19	chr17:37687800-37701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:37687800-37701200	Weak transcription	Aorta	Aorta
21	chr17:37687800-37701200	Weak transcription	Left Ventricle	heart
22	chr17:37687800-37701400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:37687800-37701400	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:37687800-37702800	Weak transcription	Right Ventricle	heart
25	chr17:37687800-37702800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:37687800-37702800	Weak transcription	Spleen	Spleen
27	chr17:37687800-37703600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:37687800-37705000	Weak transcription	NHLF	lung
29	chr17:37687800-37709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:37687800-37729800	Weak transcription	Small Intestine	intestine
31	chr17:37688000-37694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:37688000-37699600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:37688000-37701000	Weak transcription	Brain Anterior Caudate	brain
34	chr17:37688000-37701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:37688000-37702800	Weak transcription	Brain Germinal Matrix	brain
36	chr17:37688000-37707400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr17:37688200-37694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:37688200-37695000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:37688400-37695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:37688400-37699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:37688400-37700400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:37688400-37700800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr17:37688400-37701200	Weak transcription	Brain Angular Gyrus	brain
44	chr17:37688400-37701200	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:37688400-37701400	Weak transcription	Brain Substantia Nigra	brain
46	chr17:37688400-37701400	Weak transcription	Thymus	Thymus
47	chr17:37688400-37702800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:37688400-37703800	Weak transcription	Esophagus	oesophagus
49	chr17:37688400-37703800	Weak transcription	Fetal Kidney	kidney
50	chr17:37688400-37703800	Weak transcription	NHEK	skin

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