Variant report

Variant	rs1634269
Chromosome Location	chr17:45201091-45201092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45195494..45197087-chr17:45199093..45201965,2	K562	blood:

Variant related genes	Relation type
ENSG00000221016	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1102461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11079756	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079763	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs1713493	0.80[YRI][hapmap]
rs221596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221603	0.88[ASN][1000 genomes]
rs221604	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs221605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs2678693	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968308	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs6504743	0.93[ASN][1000 genomes]
rs6504744	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7208288	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073936	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858671	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs858675	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858680	0.92[ASN][1000 genomes]
rs9747171	0.98[ASN][1000 genomes]
rs9894365	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	21 gene(s)	inside rSNPs	diseases
4	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
8	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1634269	DBF4B	cis	parietal	SCAN
rs1634269	KRT9	cis	parietal	SCAN
rs1634269	TUBG1	cis	cerebellum	SCAN
rs1634269	ARL17P1	cis	multi-tissue	Pritchard
rs1634269	MYL4	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:45190000-45203200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr17:45191000-45202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:45191200-45202600	Weak transcription	Right Ventricle	heart
5	chr17:45192400-45212800	Weak transcription	Gastric	stomach
6	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
7	chr17:45194000-45209800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:45194200-45204600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:45194200-45208200	Strong transcription	HUVEC	blood vessel
10	chr17:45194200-45209600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:45194200-45209600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:45194200-45209800	Strong transcription	Dnd41	blood
13	chr17:45194800-45203600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
15	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:45195400-45201200	Strong transcription	Liver	Liver
18	chr17:45195400-45209600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:45195400-45209800	Strong transcription	Fetal Thymus	thymus
20	chr17:45195600-45203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:45195600-45209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:45195800-45201600	Strong transcription	Adipose Nuclei	Adipose
23	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:45196000-45201400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr17:45196000-45205600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:45196000-45206400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:45196000-45209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:45196000-45209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:45196400-45204200	Weak transcription	Lung	lung
31	chr17:45196400-45204200	Weak transcription	Spleen	Spleen
32	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:45196400-45212800	Weak transcription	Ovary	ovary
34	chr17:45196600-45207400	Strong transcription	Placenta	Placenta
35	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
37	chr17:45197000-45207000	Strong transcription	Fetal Lung	lung
38	chr17:45197200-45201400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:45197200-45201600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr17:45197200-45206800	Strong transcription	GM12878-XiMat	blood
41	chr17:45197200-45207400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr17:45197200-45209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:45197400-45201400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:45197400-45206400	Strong transcription	Brain Germinal Matrix	brain
45	chr17:45197400-45206800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr17:45197400-45209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:45197600-45201600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr17:45197600-45201600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:45197600-45202200	Strong transcription	HepG2	liver
50	chr17:45197600-45207400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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