Variant report

Variant	rs235883
Chromosome Location	chr1:171564343-171564344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171557033..171558814-chr1:171564305..171566084,2	K562	blood:
2	chr1:171556792..171560985-chr1:171562701..171566084,6	K562	blood:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10753119	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10753120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753121	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753126	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913176	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913198	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs116358	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626990	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1687057	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1687060	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1687061	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1687064	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170969	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs182897	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2038042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179141	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2207193	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2223898	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294289	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235465	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs235466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235467	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235469	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235470	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235473	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235474	0.81[EUR][1000 genomes]
rs235476	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235480	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235481	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235482	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235484	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235485	0.93[ASN][1000 genomes]
rs235487	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs235489	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235491	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235494	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235499	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs235500	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235503	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235506	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235884	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235885	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235887	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235908	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4276951	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4384265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916230	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916231	0.96[ASN][1000 genomes]
rs4916232	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4916389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916391	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916392	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916393	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61814663	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61814673	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6697306	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6702990	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7514441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7535195	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7536075	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7536460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7538827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7548158	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760643	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs760644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764206	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs954035	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs235883	DNM3OS	cis	Artery Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
3	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
4	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:171525800-171564400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:171528400-171564600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:171528600-171564400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:171529400-171564800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:171529600-171566200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:171539000-171565000	Strong transcription	Primary T cells from cord blood	blood
12	chr1:171539600-171565200	Weak transcription	Fetal Heart	heart
13	chr1:171543600-171564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:171554400-171568400	Weak transcription	Psoas Muscle	Psoas
15	chr1:171556000-171564800	Strong transcription	Primary B cells from cord blood	blood
16	chr1:171556800-171567600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:171558800-171564600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:171558800-171573200	Weak transcription	Small Intestine	intestine
19	chr1:171559600-171564400	Strong transcription	NH-A	brain
20	chr1:171559600-171564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:171560200-171564600	Strong transcription	Fetal Stomach	stomach
22	chr1:171561200-171565000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:171561200-171569800	Weak transcription	Pancreas	Pancrea
24	chr1:171561600-171570000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:171561600-171572200	Weak transcription	Aorta	Aorta
26	chr1:171561800-171564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:171561800-171564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:171561800-171565000	Weak transcription	Ovary	ovary
29	chr1:171561800-171565200	Weak transcription	Hela-S3	cervix
30	chr1:171561800-171565400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:171561800-171565400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:171561800-171565400	Weak transcription	Esophagus	oesophagus
33	chr1:171561800-171565400	Weak transcription	Left Ventricle	heart
34	chr1:171561800-171565400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:171561800-171565400	Weak transcription	GM12878-XiMat	blood
36	chr1:171561800-171566000	Weak transcription	Fetal Lung	lung
37	chr1:171561800-171566000	Weak transcription	Gastric	stomach
38	chr1:171561800-171566200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:171561800-171567000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:171561800-171567600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:171561800-171568000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:171561800-171568000	Weak transcription	K562	blood
43	chr1:171561800-171570200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:171561800-171570200	Weak transcription	Lung	lung
45	chr1:171561800-171570400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:171561800-171572200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:171561800-171576600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:171562000-171565800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:171562000-171568000	Weak transcription	Thymus	Thymus
50	chr1:171562000-171568200	Weak transcription	NHDF-Ad	bronchial

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