Variant report

Variant	rs9885632
Chromosome Location	chr6:131311909-131311910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131308949..131310454-chr6:131311371..131314255,2	K562	blood:
2	chr6:131304583..131308500-chr6:131310186..131313138,4	K562	blood:
3	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:
4	chr6:131308949..131310665-chr6:131311371..131314257,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1006655	0.82[CEU][hapmap]
rs10456991	1.00[ASN][1000 genomes]
rs10457565	1.00[ASN][1000 genomes]
rs10457566	1.00[ASN][1000 genomes]
rs12192664	1.00[ASN][1000 genomes]
rs12193575	1.00[ASN][1000 genomes]
rs12193685	1.00[ASN][1000 genomes]
rs12198862	1.00[ASN][1000 genomes]
rs12202022	1.00[ASN][1000 genomes]
rs12202345	1.00[ASN][1000 genomes]
rs12204522	1.00[ASN][1000 genomes]
rs12207007	1.00[ASN][1000 genomes]
rs12210131	1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12211363	1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12213224	1.00[ASN][1000 genomes]
rs12214117	1.00[ASN][1000 genomes]
rs13191751	1.00[ASN][1000 genomes]
rs13193708	1.00[ASN][1000 genomes]
rs13199082	1.00[ASN][1000 genomes]
rs13205393	1.00[ASN][1000 genomes]
rs13214846	1.00[ASN][1000 genomes]
rs13218427	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs1334689	0.88[CEU][hapmap]
rs1977578	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1999474	0.88[CEU][hapmap]
rs2105250	0.80[CEU][hapmap]
rs2327005	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs34043716	1.00[ASN][1000 genomes]
rs34206551	1.00[ASN][1000 genomes]
rs34948572	1.00[ASN][1000 genomes]
rs35061946	1.00[ASN][1000 genomes]
rs35089988	1.00[ASN][1000 genomes]
rs35111535	1.00[ASN][1000 genomes]
rs35916985	1.00[ASN][1000 genomes]
rs4897475	0.88[CEU][hapmap]
rs6569709	0.82[CEU][hapmap]
rs6932317	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6935560	1.00[ASN][1000 genomes]
rs6938309	0.82[CEU][hapmap]
rs71572945	1.00[ASN][1000 genomes]
rs71572950	1.00[ASN][1000 genomes]
rs7738572	0.82[CEU][hapmap]
rs7741462	0.82[CEU][hapmap]
rs7746714	0.87[YRI][hapmap]
rs7748468	0.82[CEU][hapmap]
rs7760822	1.00[ASN][1000 genomes]
rs7761655	0.82[CEU][hapmap]
rs7766004	0.82[CEU][hapmap]
rs7766505	0.88[CEU][hapmap]
rs7767569	1.00[ASN][1000 genomes]
rs9285468	0.82[CEU][hapmap]
rs9375786	0.82[CEU][hapmap]
rs9388867	0.82[ASW][hapmap];0.82[CEU][hapmap]
rs9388870	0.88[CEU][hapmap]
rs9388871	0.88[CEU][hapmap]
rs9402304	0.82[CEU][hapmap]
rs9402305	0.88[CEU][hapmap]
rs9402307	0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9483203	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9492754	0.82[YRI][hapmap]
rs9492764	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9885632	IKZF1	trans	lymphoblastoid	seeQTL
rs9885632	TAAR1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
4	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:131304000-131312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131304200-131313400	Weak transcription	K562	blood
7	chr6:131304400-131312200	Weak transcription	Fetal Stomach	stomach
8	chr6:131306800-131312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:131306800-131313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:131306800-131313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:131306800-131315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:131306800-131317200	Weak transcription	NHLF	lung
14	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
16	chr6:131307200-131312200	Weak transcription	Fetal Lung	lung
17	chr6:131308000-131315400	Weak transcription	Lung	lung
18	chr6:131308600-131314400	Weak transcription	Dnd41	blood
19	chr6:131309000-131312200	Weak transcription	Fetal Kidney	kidney
20	chr6:131309200-131312000	Weak transcription	Ovary	ovary
21	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
22	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:131310600-131312200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:131311200-131313400	Weak transcription	HepG2	liver
25	chr6:131311400-131318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:131311800-131312600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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