Variant report

Variant	rs17714205
Chromosome Location	chr6:36019336-36019337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36017368..36019921-chr6:36022129..36025655,3	K562	blood:
2	chr6:36016800..36019592-chr6:36020549..36024503,3	MCF-7	breast:
3	chr6:35995121..35997063-chr6:36017762..36020309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10947585	0.81[ASN][1000 genomes]
rs11755358	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11759192	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11965835	0.84[TSI][hapmap]
rs12111171	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12662129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662979	1.00[ASW][hapmap]
rs12664488	0.81[ASN][1000 genomes]
rs12664506	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12665389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs3730326	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804452	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]
rs851006	0.89[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17714205	SLC26A8	cis	cerebellum	SCAN
rs17714205	FKBP5	cis	parietal	SCAN
rs17714205	SLC26A8	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
7	chr6:36005400-36020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
9	chr6:36006600-36020000	Weak transcription	Dnd41	blood
10	chr6:36007200-36021600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:36007400-36019400	Weak transcription	Fetal Stomach	stomach
12	chr6:36007400-36021800	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:36007400-36027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:36008000-36021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:36008200-36022000	Weak transcription	Ovary	ovary
16	chr6:36008600-36022400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:36008600-36027600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:36009000-36021000	Weak transcription	Liver	Liver
19	chr6:36010200-36020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:36012400-36021800	Weak transcription	Osteobl	bone
21	chr6:36014000-36020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:36014800-36019400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:36016000-36019400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:36016200-36019400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:36016200-36019400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:36016200-36020200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:36016400-36019600	Enhancers	Stomach Mucosa	stomach
28	chr6:36016400-36020200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:36016800-36020000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:36016800-36020000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:36016800-36020400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:36016800-36024200	Enhancers	Colon Smooth Muscle	Colon
33	chr6:36017000-36019600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:36017000-36021200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:36017000-36021200	Weak transcription	Placenta	Placenta
36	chr6:36017200-36019400	Enhancers	Psoas Muscle	Psoas
37	chr6:36017200-36020400	Weak transcription	HUVEC	blood vessel
38	chr6:36017400-36019400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:36017400-36019400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:36017400-36020000	Enhancers	Spleen	Spleen
41	chr6:36017600-36020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:36017600-36020400	Enhancers	Right Atrium	heart
43	chr6:36017800-36020600	Enhancers	Adipose Nuclei	Adipose
44	chr6:36017800-36029400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:36018000-36019400	Weak transcription	HepG2	liver
46	chr6:36018000-36020000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:36018200-36019600	Enhancers	Gastric	stomach
48	chr6:36018200-36020000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:36018200-36020200	Enhancers	Rectal Smooth Muscle	rectum
50	chr6:36018200-36020400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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