Variant report

Variant	rs604033
Chromosome Location	chr3:43121559-43121560
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	chr3:43115171..43117740-chr3:43120292..43122624,2	K562	blood:
2	chr3:43112941..43114521-chr3:43120406..43122539,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1072822	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1125065	0.84[GIH][hapmap]
rs12233614	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12485530	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485578	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12487785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497602	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523125	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1566422	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17391761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470089	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1949583	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1949584	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488069	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55764298	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819365	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55945909	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577068	1.00[YRI][hapmap]
rs6796161	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074962	0.82[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422802	chr3:43121498-43124296	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs604033	ABHD5	cis	parietal	SCAN
rs604033	CCDC13	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43118200-43124800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:43118200-43128000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:43118400-43124400	Strong transcription	Fetal Muscle Leg	muscle
4	chr3:43118600-43124000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:43118600-43127800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:43118800-43123400	Strong transcription	Brain Germinal Matrix	brain
7	chr3:43118800-43124200	Strong transcription	Fetal Brain Female	brain
8	chr3:43119000-43124400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:43119000-43129600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:43119200-43123000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:43119200-43124200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:43119400-43124000	Strong transcription	Primary T cells from cord blood	blood
13	chr3:43119400-43126200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:43119400-43129800	Weak transcription	Fetal Kidney	kidney
15	chr3:43119600-43123200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:43119600-43124200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr3:43119600-43124400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:43119600-43124600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr3:43119600-43130400	Weak transcription	Hela-S3	cervix
20	chr3:43119600-43135000	Weak transcription	Psoas Muscle	Psoas
21	chr3:43119800-43121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:43119800-43121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:43119800-43123200	Strong transcription	Spleen	Spleen
24	chr3:43119800-43123600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:43119800-43123800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
27	chr3:43120000-43123600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:43120000-43125000	Strong transcription	Left Ventricle	heart
29	chr3:43120000-43125800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:43120200-43121800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:43120200-43122600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr3:43120200-43122800	Strong transcription	Fetal Thymus	thymus
33	chr3:43120200-43123000	Strong transcription	Brain Angular Gyrus	brain
34	chr3:43120200-43123200	Strong transcription	Adipose Nuclei	Adipose
35	chr3:43120200-43123400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:43120200-43124000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:43120200-43124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:43120400-43122000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:43120400-43122600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:43120400-43122600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:43120400-43122600	Strong transcription	Fetal Intestine Large	intestine
42	chr3:43120400-43122800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:43120400-43122800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:43120400-43123000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:43120400-43123200	Strong transcription	Fetal Intestine Small	intestine
46	chr3:43120400-43125600	Weak transcription	A549	lung
47	chr3:43120600-43122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:43120600-43122800	Strong transcription	Liver	Liver
49	chr3:43120600-43122800	Strong transcription	Brain Anterior Caudate	brain
50	chr3:43120600-43123000	Strong transcription	Brain Hippocampus Middle	brain

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