Variant report

Variant	rs2292867
Chromosome Location	chr17:45357489-45357490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45329741..45331334-chr17:45355703..45358331,2	K562	blood:
3	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259753	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11079770	0.91[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.99[ASN][1000 genomes]
rs11656693	0.88[ASN][1000 genomes]
rs11868894	0.86[ASW][hapmap];0.91[YRI][hapmap]
rs12709458	0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1969269	0.84[EUR][1000 genomes]
rs2292864	1.00[ASW][hapmap];0.85[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34491511	0.87[ASN][1000 genomes]
rs35265764	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3785872	0.82[EUR][1000 genomes]
rs3892084	0.87[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs3892085	0.83[EUR][1000 genomes]
rs4470207	0.88[ASN][1000 genomes]
rs4525555	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4598971	0.88[ASN][1000 genomes]
rs4629024	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs67696888	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8077753	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2292867	IFI35	cis	cerebellum	SCAN
rs2292867	KLHL11	cis	parietal	SCAN
rs2292867	OSBPL7	cis	cerebellum	SCAN
rs2292867	LOC388387	cis	cerebellum	SCAN
rs2292867	HAP1	cis	parietal	SCAN
rs2292867	DHX58	cis	parietal	SCAN
rs2292867	ACBD4	cis	parietal	SCAN
rs2292867	HOXB8	cis	cerebellum	SCAN
rs2292867	KRTAP4-5	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:45351200-45357800	Enhancers	Ovary	ovary
3	chr17:45351600-45357600	Enhancers	Fetal Stomach	stomach
4	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr17:45351800-45358200	Enhancers	Lung	lung
6	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:45352000-45358800	Enhancers	NHLF	lung
8	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr17:45353000-45358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:45353400-45358200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45354200-45358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45354600-45357600	Enhancers	Primary B cells from cord blood	blood
14	chr17:45354600-45358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr17:45354600-45359000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
17	chr17:45354800-45357800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:45355600-45358000	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:45355600-45358400	Enhancers	Left Ventricle	heart
20	chr17:45355600-45359200	Enhancers	Placenta	Placenta
21	chr17:45355800-45357800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:45355800-45358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:45355800-45358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:45355800-45358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:45356000-45357600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr17:45356000-45357600	Enhancers	Brain Hippocampus Middle	brain
27	chr17:45356000-45357600	Enhancers	Brain Substantia Nigra	brain
28	chr17:45356000-45357600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:45356000-45357600	Flanking Active TSS	Osteobl	bone
30	chr17:45356000-45357800	Enhancers	Fetal Intestine Small	intestine
31	chr17:45356000-45357800	Enhancers	HSMMtube	muscle
32	chr17:45356000-45357800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr17:45356000-45358200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:45356000-45358200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:45356000-45358200	Enhancers	Right Atrium	heart
36	chr17:45356000-45358200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:45356000-45358200	Enhancers	Spleen	Spleen
38	chr17:45356000-45359200	Enhancers	HMEC	breast
39	chr17:45356200-45357600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:45356200-45357600	Flanking Active TSS	GM12878-XiMat	blood
41	chr17:45356200-45358000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:45356200-45358200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr17:45356200-45362000	Weak transcription	Liver	Liver
44	chr17:45356400-45357600	Enhancers	Stomach Mucosa	stomach
45	chr17:45356400-45358200	Enhancers	Fetal Kidney	kidney
46	chr17:45356400-45358200	Genic enhancers	Fetal Muscle Leg	muscle
47	chr17:45356600-45358200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr17:45356600-45358400	Enhancers	HSMM	muscle
49	chr17:45356800-45357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:45356800-45358000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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