Variant report

Variant	rs2577130
Chromosome Location	chr1:220343816-220343817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220331390..220335000-chr1:220342919..220345374,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1465816	0.80[TSI][hapmap]
rs2004080	0.82[EUR][1000 genomes]
rs2789788	0.87[ASW][hapmap];0.87[CEU][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2789789	0.87[ASW][hapmap];0.87[CEU][hapmap];0.91[TSI][hapmap]
rs2789792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2808022	0.82[CEU][hapmap];0.80[TSI][hapmap]
rs2808026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2577130	BPNT1	cis	cerebellum	SCAN
rs2577130	C1orf115	cis	lymphoblastoid	seeQTL
rs2577130	MOSC2	cis	lymphoblastoid	seeQTL
rs2577130	LYPLAL1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220305400-220347000	Strong transcription	Dnd41	blood
2	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:220323800-220348000	Strong transcription	Primary B cells from cord blood	blood
9	chr1:220324000-220347000	Strong transcription	HMEC	breast
10	chr1:220325000-220398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:220325400-220347000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:220325400-220356000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:220330200-220345000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:220330600-220363600	Weak transcription	Fetal Brain Male	brain
15	chr1:220330800-220344000	Weak transcription	Spleen	Spleen
16	chr1:220330800-220344200	Weak transcription	NHEK	skin
17	chr1:220330800-220378600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220331800-220347200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:220331800-220354000	Weak transcription	Right Ventricle	heart
20	chr1:220332200-220347200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:220332200-220352800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:220333000-220348600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:220333200-220350000	Weak transcription	Stomach Mucosa	stomach
24	chr1:220333400-220348400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:220334000-220347200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:220334200-220344200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:220336400-220347000	Strong transcription	Adipose Nuclei	Adipose
28	chr1:220336400-220347800	Strong transcription	Fetal Thymus	thymus
29	chr1:220337000-220352200	Strong transcription	Fetal Intestine Large	intestine
30	chr1:220337200-220346600	Strong transcription	Placenta	Placenta
31	chr1:220337200-220347200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:220337200-220348600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:220337400-220347000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:220337400-220347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:220337400-220347000	Strong transcription	Liver	Liver
36	chr1:220337400-220347400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:220337400-220347800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:220337600-220346600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:220337800-220347200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:220338000-220346800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:220338000-220347200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:220338200-220347000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:220338200-220347200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:220338400-220344200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:220338400-220346600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:220338400-220347200	Strong transcription	NH-A	brain
47	chr1:220338800-220346600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:220339000-220346600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr1:220339000-220346600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:220339000-220347000	Strong transcription	Fetal Muscle Trunk	muscle

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