Variant report

Variant	rs12111171
Chromosome Location	chr6:36084765-36084766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36082897..36086209-chr6:36163337..36166461,3	MCF-7	breast:
2	chr6:35995368..35997514-chr6:36082731..36086570,3	MCF-7	breast:
3	chr6:36084210..36086558-chr6:36391180..36393773,2	K562	blood:
4	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
5	chr6:36074612..36076975-chr6:36081274..36085326,4	K562	blood:
6	chr6:36077863..36080444-chr6:36082662..36085280,4	K562	blood:
7	chr6:36084320..36086467-chr6:36099428..36101090,2	MCF-7	breast:
8	chr6:36083349..36090492-chr6:36162486..36165995,10	K562	blood:
9	chr6:36065903..36068557-chr6:36084761..36087937,3	K562	blood:
10	chr6:36068703..36074391-chr6:36083766..36088093,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11755358	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965835	0.83[GIH][hapmap];0.84[TSI][hapmap]
rs12662129	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12664506	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12665389	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17656461	0.83[GIH][hapmap];0.84[TSI][hapmap]
rs17707331	0.89[CHD][hapmap];0.81[TSI][hapmap]
rs17713154	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs17714205	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]
rs3730326	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3804452	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]
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
rs12111171	SLC26A8	cis	parietal	SCAN
rs12111171	FKBP5	cis	parietal	SCAN
rs12111171	SLC26A8	cis	cerebellum	SCAN

Chromatin state (count:124 , 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	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:36074800-36085400	Strong transcription	Fetal Stomach	stomach
5	chr6:36074800-36085600	Strong transcription	Fetal Intestine Small	intestine
6	chr6:36076600-36088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:36076600-36088600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:36077000-36086200	Weak transcription	Esophagus	oesophagus
9	chr6:36077200-36085800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:36077200-36086000	Weak transcription	Small Intestine	intestine
11	chr6:36077200-36088400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:36077200-36088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:36077200-36088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:36077200-36088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:36077200-36088800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:36077200-36094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
18	chr6:36077400-36094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
20	chr6:36077600-36089000	Weak transcription	A549	lung
21	chr6:36078000-36088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:36078400-36088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:36078400-36088400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:36078400-36088400	Weak transcription	NHLF	lung
25	chr6:36078400-36092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:36078600-36088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:36078600-36091400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:36078800-36087800	Weak transcription	HUVEC	blood vessel
29	chr6:36079000-36088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:36079200-36088000	Weak transcription	Fetal Kidney	kidney
31	chr6:36079200-36088800	Weak transcription	NH-A	brain
32	chr6:36079600-36085000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:36079600-36088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:36079600-36088400	Weak transcription	NHEK	skin
35	chr6:36079600-36088600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:36079600-36088800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:36079600-36088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:36079600-36089000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:36079600-36089000	Weak transcription	HMEC	breast
40	chr6:36079600-36091400	Weak transcription	Right Ventricle	heart
41	chr6:36079600-36092600	Weak transcription	Brain Germinal Matrix	brain
42	chr6:36079600-36094400	Weak transcription	Hela-S3	cervix
43	chr6:36079800-36085400	Weak transcription	Gastric	stomach
44	chr6:36079800-36085800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:36079800-36086200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:36079800-36086400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:36079800-36088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:36079800-36088800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:36080000-36088200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:36080200-36086200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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