Variant report

Variant	rs2586112
Chromosome Location	chr17:38572366-38572367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38571689..38573604-chr17:38633869..38636651,3	K562	blood:
2	chr17:38571639..38573723-chr17:38715202..38717079,2	K562	blood:
3	chr17:38518730..38520682-chr17:38569502..38573340,3	MCF-7	breast:
4	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
5	chr17:38519063..38522724-chr17:38572084..38575827,4	K562	blood:
6	chr17:38455293..38459575-chr17:38570214..38574368,4	MCF-7	breast:
7	chr17:38571032..38573663-chr17:38599066..38602957,3	K562	blood:
8	chr17:38571689..38573226-chr17:38635126..38636651,2	K562	blood:
9	chr17:38511730..38513729-chr17:38571391..38573347,2	MCF-7	breast:
10	chr17:38471740..38479367-chr17:38570407..38574457,9	MCF-7	breast:
11	chr17:38546072..38547911-chr17:38570346..38572466,2	K562	blood:
12	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
13	chr17:38571246..38572914-chr17:38603298..38604938,2	MCF-7	breast:
14	chr17:38571667..38573665-chr17:38677679..38680655,2	K562	blood:
15	chr17:38518117..38522815-chr17:38572084..38576075,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000222881	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000183153	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1530363	0.81[CEU][hapmap];0.98[GIH][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs1662574	0.95[ASN][1000 genomes]
rs16965783	0.93[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2715556	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.95[ASN][1000 genomes]
rs2715557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473198	1.00[ASW][hapmap];0.93[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs474510	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs477220	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495511	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs505633	1.00[ASN][1000 genomes]
rs506728	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs507564	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs510336	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs517047	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs525217	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs525812	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs528045	0.90[EUR][1000 genomes]
rs532299	0.95[ASN][1000 genomes]
rs552857	0.94[EUR][1000 genomes]
rs557498	0.94[EUR][1000 genomes]
rs558068	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62066565	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2586112	KRT33B	cis	parietal	SCAN
rs2586112	MYO19	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38544400-38573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:38545200-38573200	Weak transcription	Gastric	stomach
3	chr17:38546000-38573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:38546400-38572800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:38546400-38573200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:38548400-38572800	Weak transcription	Primary B cells from cord blood	blood
7	chr17:38549800-38573000	Weak transcription	Fetal Intestine Large	intestine
8	chr17:38551000-38573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:38552200-38573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:38557400-38572800	Weak transcription	Fetal Kidney	kidney
11	chr17:38557800-38572800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:38559200-38573000	Weak transcription	Primary T cells from cord blood	blood
13	chr17:38559200-38573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:38559400-38573200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:38559800-38572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:38563200-38572600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:38565800-38573000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:38567000-38572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:38567000-38572400	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:38567200-38573000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:38568600-38572400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:38569200-38572800	Weak transcription	Fetal Lung	lung
23	chr17:38569200-38573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38569200-38573000	Weak transcription	Placenta	Placenta
25	chr17:38569800-38573000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:38570200-38572400	Genic enhancers	HepG2	liver
27	chr17:38570800-38572400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:38570800-38572800	Weak transcription	Fetal Intestine Small	intestine
29	chr17:38570800-38573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:38571400-38572400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:38571400-38573200	Transcr. at gene 5' and 3'	A549	lung
32	chr17:38571400-38573400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr17:38571600-38572600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr17:38571600-38572600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:38571600-38572600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:38571600-38572600	Active TSS	NH-A	brain
37	chr17:38571600-38572800	Enhancers	Fetal Heart	heart
38	chr17:38571600-38572800	Enhancers	Fetal Stomach	stomach
39	chr17:38571600-38573000	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr17:38571600-38573400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:38571600-38573400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:38571600-38574000	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr17:38571600-38574800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:38571600-38574800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:38571800-38572400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr17:38571800-38572400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr17:38571800-38572400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
48	chr17:38571800-38572600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr17:38571800-38572800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:38571800-38572800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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