Variant report

Variant	rs2306029
Chromosome Location	chr11:46893108-46893109
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	chr11:46884291..46887110-chr11:46892945..46894975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134569	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10769205	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11038993	0.84[CEU][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes]
rs12361673	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2070852	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2306032	0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3136516	0.84[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs3763963	0.82[AMR][1000 genomes]
rs4506602	0.83[AMR][1000 genomes]
rs6485696	0.85[JPT][hapmap]
rs6485702	0.81[ASW][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7932354	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs7947747	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
D-dimer levels	21502573	GWAS catalog

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2306029	OR4S1	cis	parietal	SCAN
rs2306029	OR4B1	cis	cerebellum	SCAN
rs2306029	ARHGAP1	cis	Muscle Skeletal	GTEx
rs2306029	NUP160	cis	cerebellum	SCAN
rs2306029	ACP2	cis	cerebellum	SCAN
rs2306029	MADD	cis	parietal	SCAN
rs2306029	FNBP4	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46868000-46909000	Weak transcription	Small Intestine	intestine
2	chr11:46868600-46894400	Weak transcription	HMEC	breast
3	chr11:46868600-46895200	Weak transcription	Fetal Heart	heart
4	chr11:46868600-46917400	Weak transcription	Fetal Brain Male	brain
5	chr11:46868800-46913000	Weak transcription	A549	lung
6	chr11:46875600-46917200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:46876000-46905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:46876200-46894600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:46876600-46911400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:46876600-46916600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:46877400-46909200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:46877400-46909200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:46877400-46912000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46877400-46912600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:46877600-46919000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46877800-46912200	Strong transcription	Fetal Stomach	stomach
17	chr11:46877800-46912400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:46878000-46908200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:46878400-46909600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:46878400-46922000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:46879000-46909000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:46879200-46901200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:46879800-46918200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:46880000-46901000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:46880800-46896800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:46880800-46910800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:46882000-46897600	Weak transcription	Stomach Mucosa	stomach
28	chr11:46882400-46894400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:46882400-46894600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:46883800-46899200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:46883800-46904200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:46884800-46894600	Weak transcription	Gastric	stomach
33	chr11:46885000-46893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:46885000-46894600	Weak transcription	Liver	Liver
35	chr11:46886000-46896400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:46886000-46921800	Weak transcription	Hela-S3	cervix
37	chr11:46886200-46907000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:46886800-46894800	Weak transcription	NHEK	skin
39	chr11:46886800-46895000	Weak transcription	Esophagus	oesophagus
40	chr11:46886800-46897000	Weak transcription	Fetal Kidney	kidney
41	chr11:46887400-46893600	Strong transcription	HSMMtube	muscle
42	chr11:46887400-46895000	Weak transcription	NH-A	brain
43	chr11:46887600-46894800	Weak transcription	NHLF	lung
44	chr11:46887600-46918600	Weak transcription	NHDF-Ad	bronchial
45	chr11:46888200-46900800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:46888200-46901400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:46888600-46901200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:46888800-46901000	Strong transcription	Brain Anterior Caudate	brain
49	chr11:46889200-46896400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:46889400-46898800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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