Variant report

Variant	rs2275290
Chromosome Location	chr6:79656570-79656571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79656082..79659327-chr6:79665132..79668845,3	K562	blood:
2	chr6:79654888..79657549-chr6:79663187..79666105,2	K562	blood:
3	chr6:79650100..79651603-chr6:79654723..79657145,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10806154	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11964204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192086	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1338023	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs2275291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3818839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3929867	0.92[ASN][1000 genomes]
rs6908105	0.94[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6940949	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs7740307	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7750836	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756648	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7776138	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9341753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9343849	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343853	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343859	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343865	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[ASN][1000 genomes]
rs9343867	0.88[ASW][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs9343869	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9350797	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350801	0.88[ASN][1000 genomes]
rs9352668	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs9352672	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9352679	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352685	0.86[ASN][1000 genomes]
rs9352688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs9352693	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs9352701	0.81[ASN][1000 genomes]
rs9359361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs9361473	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9361478	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361481	0.88[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs9361483	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9361497	0.81[ASN][1000 genomes]
rs9443623	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9443642	0.83[ASN][1000 genomes]
rs9448594	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9448600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448602	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9448616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[ASN][1000 genomes]
rs9448647	0.80[ASN][1000 genomes]
rs956550	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9688928	0.87[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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2275290	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79642600-79658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79644000-79658600	Strong transcription	Dnd41	blood
3	chr6:79645000-79657400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:79645600-79658200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:79645600-79658600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:79646000-79658000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:79646000-79658400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:79646200-79658200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr6:79646200-79658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:79646200-79659000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:79646400-79658200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:79646400-79658400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:79646600-79658000	Strong transcription	Liver	Liver
14	chr6:79647200-79658200	Strong transcription	Placenta	Placenta
15	chr6:79648000-79657400	Strong transcription	HUVEC	blood vessel
16	chr6:79648000-79658200	Weak transcription	Esophagus	oesophagus
17	chr6:79648000-79658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:79648000-79660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:79648000-79681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:79648200-79658200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:79648800-79657600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:79648800-79658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:79648800-79658200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr6:79648800-79658200	Weak transcription	Fetal Stomach	stomach
25	chr6:79648800-79658400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:79648800-79658400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:79648800-79658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:79648800-79658600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:79648800-79658600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:79648800-79658600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:79648800-79659000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:79648800-79714400	Weak transcription	Gastric	stomach
33	chr6:79649000-79657200	Strong transcription	GM12878-XiMat	blood
34	chr6:79649000-79658000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:79649000-79658200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr6:79649000-79658200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:79649000-79658200	Weak transcription	Pancreas	Pancrea
38	chr6:79649000-79658200	Weak transcription	Spleen	Spleen
39	chr6:79649000-79658400	Strong transcription	Primary B cells from cord blood	blood
40	chr6:79649000-79658400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:79649000-79666200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
43	chr6:79649200-79658200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:79649200-79658200	Weak transcription	Right Ventricle	heart
45	chr6:79649200-79658600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:79649400-79658200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:79649400-79658200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:79649400-79658200	Strong transcription	Adipose Nuclei	Adipose
49	chr6:79649400-79658200	Strong transcription	Fetal Intestine Large	intestine
50	chr6:79649400-79658400	Strong transcription	Fetal Lung	lung

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