Variant report

Variant	rs10916581
Chromosome Location	chr1:224476409-224476410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224475358..224477098-chr1:224478513..224481453,4	K562	blood:
2	chr1:224475534..224477098-chr1:224478722..224481398,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10916583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001890	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2405305	1.00[LWK][hapmap]
rs4653572	1.00[YRI][hapmap]
rs57704732	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61826448	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10916581	FBXO28	cis	lymphoblastoid	seeQTL
rs10916581	CNIH4	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
2	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
4	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
6	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:224454800-224480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:224455000-224480200	Weak transcription	Psoas Muscle	Psoas
12	chr1:224457200-224479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:224462200-224479600	Weak transcription	Spleen	Spleen
15	chr1:224465000-224487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:224465000-224488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:224465000-224504400	Strong transcription	Liver	Liver
19	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:224465200-224487000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:224465400-224477600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:224465600-224477600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:224465600-224477800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:224466200-224484200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:224466200-224487800	Strong transcription	NH-A	brain
28	chr1:224466400-224481200	Weak transcription	Small Intestine	intestine
29	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:224466600-224505600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:224466800-224499200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:224467600-224484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:224468000-224477600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:224468000-224477600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:224468000-224505200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:224468200-224496000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:224468600-224500000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:224469600-224478000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:224469800-224477600	Strong transcription	HUVEC	blood vessel
42	chr1:224469800-224485600	Strong transcription	Fetal Intestine Large	intestine
43	chr1:224469800-224493200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:224470000-224477800	Strong transcription	HSMM	muscle
45	chr1:224470200-224480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:224470400-224477800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:224471400-224479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:224471600-224480200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:224471800-224477600	Strong transcription	Hela-S3	cervix
50	chr1:224472200-224477200	Strong transcription	Osteobl	bone

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