Variant report

Variant	rs7223896
Chromosome Location	chr17:37625184-37625185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37616532..37619148-chr17:37622175..37626239,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10445305	0.82[EUR][1000 genomes]
rs10445306	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10445307	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10491128	0.82[ASN][1000 genomes]
rs1077715	0.80[EUR][1000 genomes]
rs11078900	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078901	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078902	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078903	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078904	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078905	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11078906	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11078907	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11078910	0.80[EUR][1000 genomes]
rs11078912	0.80[EUR][1000 genomes]
rs11650081	0.81[EUR][1000 genomes]
rs11650146	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11651089	0.85[EUR][1000 genomes]
rs11657899	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11659010	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11867312	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868029	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868030	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868133	0.80[ASN][1000 genomes]
rs11869109	0.80[ASN][1000 genomes]
rs11870631	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12150493	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12449852	0.80[ASN][1000 genomes]
rs12451586	0.88[AMR][1000 genomes]
rs12452509	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12452682	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12452880	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12453397	0.85[AMR][1000 genomes]
rs12600625	0.80[ASN][1000 genomes]
rs12600751	0.82[ASN][1000 genomes]
rs12936646	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12936996	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12937703	0.85[ASN][1000 genomes]
rs12938268	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12939831	0.80[ASN][1000 genomes]
rs12942352	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12942360	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12943928	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12947281	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12947600	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12947620	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12948560	0.82[EUR][1000 genomes]
rs12948906	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12950666	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12952384	0.80[EUR][1000 genomes]
rs2018026	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2338797	0.82[ASN][1000 genomes]
rs2338798	0.80[ASN][1000 genomes]
rs34363096	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34432983	0.82[ASN][1000 genomes]
rs34597616	0.81[ASN][1000 genomes]
rs34957982	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35112839	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35285898	0.82[ASN][1000 genomes]
rs35497503	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35667594	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36064019	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4286140	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4390625	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4410117	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4462633	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4511574	0.80[EUR][1000 genomes]
rs4794807	0.80[EUR][1000 genomes]
rs4794809	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794810	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4795357	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4795359	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4795361	0.81[EUR][1000 genomes]
rs4795364	0.83[ASN][1000 genomes]
rs4795369	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795371	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4795377	0.80[EUR][1000 genomes]
rs55660616	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55722796	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57399933	0.80[ASN][1000 genomes]
rs57448077	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61161659	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62075056	0.87[AFR][1000 genomes]
rs62077463	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62077464	0.80[ASN][1000 genomes]
rs6503507	0.80[EUR][1000 genomes]
rs6503513	0.83[ASN][1000 genomes]
rs6503515	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6503517	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503518	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7212715	0.87[AFR][1000 genomes]
rs7212868	0.83[AFR][1000 genomes]
rs7219014	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219294	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225096	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7405667	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7406928	0.80[EUR][1000 genomes]
rs7501488	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7503705	0.80[EUR][1000 genomes]
rs8065963	0.80[EUR][1000 genomes]
rs8067884	0.80[EUR][1000 genomes]
rs8072351	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8076546	0.82[ASN][1000 genomes]
rs8077104	0.80[EUR][1000 genomes]
rs8079303	0.80[EUR][1000 genomes]
rs8081780	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9747983	0.81[ASN][1000 genomes]
rs9892675	0.82[ASN][1000 genomes]
rs9898773	0.80[EUR][1000 genomes]
rs9901219	0.83[ASN][1000 genomes]
rs9904919	0.83[ASN][1000 genomes]
rs9905432	0.82[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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7223896	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
4	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:37620600-37625400	Weak transcription	NHDF-Ad	bronchial
8	chr17:37620800-37625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:37620800-37626800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:37620800-37627200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:37621000-37626600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:37621000-37626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:37621000-37627000	Weak transcription	HSMMtube	muscle
14	chr17:37621000-37627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:37621000-37627200	Weak transcription	Right Ventricle	heart
16	chr17:37621000-37627600	Weak transcription	Colonic Mucosa	Colon
17	chr17:37621200-37625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:37621200-37626800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:37621200-37626800	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:37621200-37626800	Weak transcription	HMEC	breast
21	chr17:37621200-37627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:37621200-37627000	Weak transcription	Brain Substantia Nigra	brain
23	chr17:37621200-37627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:37621200-37627200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:37621200-37627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:37621200-37627200	Weak transcription	Aorta	Aorta
27	chr17:37621200-37627200	Weak transcription	Gastric	stomach
28	chr17:37621200-37627200	Weak transcription	Psoas Muscle	Psoas
29	chr17:37621400-37626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:37621400-37626200	Strong transcription	Fetal Intestine Small	intestine
31	chr17:37621400-37630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:37621600-37626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:37621600-37627200	Weak transcription	Thymus	Thymus
34	chr17:37621800-37626800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:37621800-37626800	Weak transcription	NH-A	brain
36	chr17:37621800-37626800	Weak transcription	NHEK	skin
37	chr17:37621800-37627000	Weak transcription	NHLF	lung
38	chr17:37622000-37625800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:37622000-37627000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr17:37622000-37627000	Weak transcription	Left Ventricle	heart
41	chr17:37622000-37627200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:37622000-37627200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:37622000-37627200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:37622000-37627200	Weak transcription	Lung	lung
45	chr17:37622000-37627200	Weak transcription	Ovary	ovary
46	chr17:37622000-37627200	Weak transcription	Pancreas	Pancrea
47	chr17:37622000-37627200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:37622000-37627200	Weak transcription	Small Intestine	intestine
49	chr17:37622000-37627200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:37622200-37625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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