Variant report

Variant	rs1860803
Chromosome Location	chr7:106779840-106779841
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106773601..106775957-chr7:106778004..106780204,2	K562	blood:
2	chr7:106769128..106772785-chr7:106778726..106781128,3	K562	blood:
3	chr7:106646198..106648005-chr7:106778307..106780674,2	K562	blood:
4	chr7:106772470..106774021-chr7:106779836..106782677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243193	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10248105	0.88[YRI][hapmap]
rs10261881	1.00[YRI][hapmap]
rs10272371	0.89[YRI][hapmap]
rs10281856	0.94[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11760261	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667954	0.82[JPT][hapmap]
rs12705402	0.83[JPT][hapmap]
rs12705403	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs12705404	0.84[GIH][hapmap]
rs13311274	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237652	0.83[JPT][hapmap]
rs2237653	0.85[YRI][hapmap]
rs2237654	0.82[JPT][hapmap]
rs2237656	0.83[JPT][hapmap]
rs2250121	0.89[YRI][hapmap]
rs2302453	0.83[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap]
rs3735613	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs3801968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801969	0.83[JPT][hapmap]
rs6466156	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6466159	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6955387	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6960708	0.95[YRI][hapmap]
rs717099	0.87[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs741008	0.83[JPT][hapmap]
rs7778076	0.80[YRI][hapmap]
rs7786692	0.89[YRI][hapmap]
rs7800621	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809330	0.83[CHD][hapmap];0.83[JPT][hapmap]
rs917760	0.83[JPT][hapmap]
rs9648946	0.83[JPT][hapmap]

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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1860803	SLC26A5	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760200-106782000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:106767400-106797600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:106767800-106782400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:106773200-106786800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:106777800-106781400	Weak transcription	K562	blood
8	chr7:106778400-106780400	Enhancers	Fetal Brain Male	brain
9	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:106778800-106782800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:106779000-106780200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:106779000-106780200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:106779200-106780000	Enhancers	Fetal Stomach	stomach
14	chr7:106779400-106780000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:106779400-106780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:106779600-106780000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:106779600-106780000	Enhancers	Fetal Heart	heart
18	chr7:106779600-106780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:106779600-106780200	Enhancers	Adipose Nuclei	Adipose
20	chr7:106779600-106780200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:106779600-106780200	Enhancers	Right Atrium	heart
22	chr7:106779800-106780000	Enhancers	Osteobl	bone
23	chr7:106779800-106790800	Weak transcription	Brain Inferior Temporal Lobe	brain

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