Variant report

Variant	rs9890867
Chromosome Location	chr17:16230490-16230491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16230260..16232698-chr17:16238773..16240667,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11078337	1.00[ASN][1000 genomes]
rs11650283	0.92[EUR][1000 genomes]
rs11651955	0.92[EUR][1000 genomes]
rs12938397	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs12945877	0.92[EUR][1000 genomes]
rs12946717	0.91[EUR][1000 genomes]
rs12948905	0.87[EUR][1000 genomes]
rs1476810	0.81[CEU][hapmap];0.96[EUR][1000 genomes]
rs15739	0.90[EUR][1000 genomes]
rs178837	1.00[CHB][hapmap]
rs35762856	0.92[EUR][1000 genomes]
rs4792732	0.92[EUR][1000 genomes]
rs4792735	0.81[EUR][1000 genomes]
rs56326304	0.86[EUR][1000 genomes]
rs7477	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9890867	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs9890867	CENPV	cis	Artery Tibial	GTEx
rs9890867	LOC125150	cis	uninvolved skin	skin_eQTL
rs9890867	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs9890867	PRR6	cis	multi-tissue	Pritchard
rs9890867	ZSWIM7	cis	Muscle Skeletal	GTEx
rs9890867	ADORA2B	cis	Muscle Skeletal	GTEx
rs9890867	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs9890867	ADORA2B	cis	Artery Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16201000-16232400	Weak transcription	Hela-S3	cervix
2	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
3	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:16206000-16232200	Weak transcription	HMEC	breast
5	chr17:16206000-16245800	Weak transcription	Brain Anterior Caudate	brain
6	chr17:16206000-16246000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:16207400-16232400	Weak transcription	Right Atrium	heart
8	chr17:16209000-16245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr17:16214600-16233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:16214600-16255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:16216400-16231000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:16216800-16232400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:16217000-16232400	Weak transcription	Gastric	stomach
14	chr17:16217000-16246000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:16217200-16255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:16217400-16232400	Weak transcription	A549	lung
17	chr17:16217600-16232600	Weak transcription	Small Intestine	intestine
18	chr17:16218000-16231800	Strong transcription	Fetal Intestine Small	intestine
19	chr17:16218000-16232000	Strong transcription	Fetal Stomach	stomach
20	chr17:16218000-16232400	Weak transcription	NHLF	lung
21	chr17:16219200-16246000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:16220800-16232400	Weak transcription	Stomach Mucosa	stomach
23	chr17:16221200-16232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:16221400-16232400	Weak transcription	NHEK	skin
25	chr17:16222800-16245600	Weak transcription	Right Ventricle	heart
26	chr17:16224600-16232400	Weak transcription	HUVEC	blood vessel
27	chr17:16225800-16245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:16226000-16230600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr17:16226000-16230600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:16226000-16230800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:16226000-16231000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:16226600-16232400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:16226600-16232400	Weak transcription	NHDF-Ad	bronchial
34	chr17:16226600-16245600	Weak transcription	Fetal Kidney	kidney
35	chr17:16227200-16230600	Strong transcription	Primary T cells from cord blood	blood
36	chr17:16227400-16230600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:16227400-16232600	Weak transcription	Fetal Heart	heart
38	chr17:16227600-16230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:16227600-16230600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:16227600-16231200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:16227600-16232400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:16227800-16230600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:16227800-16230800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:16228000-16230600	Strong transcription	Adipose Nuclei	Adipose
45	chr17:16228000-16230600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:16228000-16230800	Strong transcription	NH-A	brain
47	chr17:16228000-16231000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:16228200-16230600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:16228200-16230600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:16228200-16230600	Strong transcription	Primary monocytes fromperipheralblood	blood

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