Variant report

Variant	rs17035305
Chromosome Location	chr1:10616505-10616506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10574766..10576583-chr1:10614783..10617657,2	MCF-7	breast:
2	chr1:10615907..10618063-chr1:10619537..10622754,3	K562	blood:
3	chr1:10583207..10584998-chr1:10614672..10617008,2	K562	blood:
4	chr1:10612660..10614592-chr1:10614870..10616805,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10864459	0.82[GIH][hapmap]
rs11121587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188526	0.82[CHB][hapmap]
rs12028449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129512	1.00[YRI][hapmap]
rs12375	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1411402	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2026792	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2056417	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2150038	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480777	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2480782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2480784	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2480785	0.88[EUR][1000 genomes]
rs2483677	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2506880	0.87[EUR][1000 genomes]
rs2506889	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2506892	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2506896	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2781230	0.90[GIH][hapmap]
rs2847344	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs34575776	0.99[EUR][1000 genomes]
rs4846235	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585870	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs589400	0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs596537	0.82[CHB][hapmap]
rs607941	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs616402	0.82[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs616488	0.93[GIH][hapmap]
rs617728	0.88[EUR][1000 genomes]
rs620405	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap]
rs622623	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap]
rs648324	0.82[CHB][hapmap]
rs648399	0.82[CHB][hapmap]
rs660725	0.82[CHB][hapmap]
rs662064	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap]
rs6687430	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs668805	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs669701	0.82[CHB][hapmap]
rs67488812	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430149	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1015079	chr1:10611403-10645176	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17035305	AADACL3	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:10602000-10619400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:10602600-10619400	Weak transcription	NHEK	skin
10	chr1:10602600-10624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:10604600-10619600	Weak transcription	Thymus	Thymus
13	chr1:10604600-10621400	Weak transcription	Dnd41	blood
14	chr1:10604600-10623800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:10604800-10621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:10605400-10621200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:10606000-10638000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:10607200-10619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:10607600-10623200	Weak transcription	Fetal Stomach	stomach
21	chr1:10607600-10636800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:10607600-10636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:10607600-10641400	Weak transcription	Lung	lung
24	chr1:10609800-10624200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:10610600-10619600	Weak transcription	Gastric	stomach
26	chr1:10611200-10619600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:10611800-10624000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:10612800-10616600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:10613600-10617000	Enhancers	Liver	Liver
30	chr1:10613600-10622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:10613800-10616600	Weak transcription	Fetal Thymus	thymus
32	chr1:10613800-10621000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:10614000-10619600	Weak transcription	Pancreas	Pancrea
34	chr1:10614000-10621000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:10614000-10623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:10614400-10616800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:10614400-10617000	Enhancers	GM12878-XiMat	blood
38	chr1:10614400-10617200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:10614600-10616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:10614600-10616800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:10614600-10616800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:10615000-10616600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:10615000-10616800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:10615000-10617000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:10615400-10616600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:10615400-10616600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:10615400-10616800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:10615400-10616800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:10615400-10616800	Enhancers	Fetal Heart	heart
50	chr1:10615400-10617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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