Variant report

Variant	rs3804452
Chromosome Location	chr6:36076934-36076935
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	chr6:36075459..36077532-chr6:36079857..36081490,2	K562	blood:
2	chr6:36074612..36076975-chr6:36081274..36085326,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11755358	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965835	0.84[TSI][hapmap]
rs12111171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662129	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12664506	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12665389	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17656461	0.84[TSI][hapmap]
rs17707124	1.00[YRI][hapmap]
rs17707331	0.89[CHD][hapmap];0.92[GIH][hapmap];0.81[TSI][hapmap]
rs17713154	1.00[CHD][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap]
rs17714205	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3730326	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs851006	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3804452	SLC26A8	cis	cerebellum	SCAN
rs3804452	SLC26A8	cis	parietal	SCAN
rs3804452	FKBP5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36060600-36080800	Weak transcription	Ovary	ovary
4	chr6:36063200-36080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:36063400-36080600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:36063600-36080800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:36065400-36082600	Weak transcription	Stomach Mucosa	stomach
8	chr6:36067000-36082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:36067400-36081000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:36067600-36080000	Strong transcription	Dnd41	blood
11	chr6:36067800-36079600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:36068000-36078800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:36068200-36081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:36068600-36078000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:36068600-36079600	Strong transcription	HepG2	liver
17	chr6:36068800-36079800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:36069000-36081400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:36069200-36081800	Strong transcription	Fetal Intestine Large	intestine
20	chr6:36069400-36080200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:36069400-36080200	Strong transcription	Osteobl	bone
22	chr6:36069400-36083000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:36069600-36078000	Strong transcription	Adipose Nuclei	Adipose
24	chr6:36069600-36080000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:36069600-36081200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:36070000-36079600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr6:36070000-36079600	Strong transcription	Hela-S3	cervix
28	chr6:36070000-36079800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:36070000-36080600	Strong transcription	Placenta	Placenta
30	chr6:36070000-36082000	Strong transcription	Liver	Liver
31	chr6:36070200-36079600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:36071600-36077000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:36072200-36082800	Weak transcription	Colonic Mucosa	Colon
34	chr6:36073000-36078600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:36073000-36079400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:36073200-36077000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:36073200-36082600	Weak transcription	Fetal Heart	heart
38	chr6:36073800-36078200	Strong transcription	K562	blood
39	chr6:36074600-36079600	Strong transcription	Brain Germinal Matrix	brain
40	chr6:36074600-36079800	Strong transcription	NHDF-Ad	bronchial
41	chr6:36074600-36080200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:36074600-36080200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:36074600-36081000	Genic enhancers	Fetal Thymus	thymus
44	chr6:36074800-36077000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr6:36074800-36077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:36074800-36077600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:36074800-36078400	Genic enhancers	Primary T cells from cord blood	blood
48	chr6:36074800-36078400	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr6:36074800-36079000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:36074800-36080600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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