Variant report

Variant	rs11675985
Chromosome Location	chr2:86558975-86558976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86557932..86559986-chr2:86586521..86589056,2	MCF-7	breast:
2	chr2:86552980..86555003-chr2:86557144..86560058,2	K562	blood:
3	chr2:86558503..86561277-chr2:86568134..86571104,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10210162	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10210905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs11682376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11695402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11891758	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13404016	0.94[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1863054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1863064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1863065	0.88[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2113616	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs2161896	0.87[ASN][1000 genomes]
rs2367231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4832034	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4832259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4832266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4832275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57771960	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6718596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6728519	0.97[ASN][1000 genomes]
rs6730604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6734695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6756213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7576102	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7606188	1.00[CHB][hapmap];1.00[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11675985	C2orf23	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:86536200-86559800	Weak transcription	HSMMtube	muscle
3	chr2:86537600-86563000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:86542200-86559400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:86549200-86563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:86551600-86559200	Weak transcription	Fetal Brain Male	brain
7	chr2:86552200-86563800	Weak transcription	Aorta	Aorta
8	chr2:86555400-86559600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:86555400-86563200	Weak transcription	Spleen	Spleen
10	chr2:86556800-86561200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:86557400-86559800	Weak transcription	Right Atrium	heart
12	chr2:86557600-86561000	Weak transcription	Left Ventricle	heart
13	chr2:86557800-86559800	Enhancers	Fetal Intestine Large	intestine
14	chr2:86557800-86560200	Enhancers	Psoas Muscle	Psoas
15	chr2:86558200-86559800	Enhancers	Fetal Intestine Small	intestine
16	chr2:86558400-86559000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:86558400-86559200	Bivalent Enhancer	HepG2	liver
18	chr2:86558400-86560200	Enhancers	Right Ventricle	heart
19	chr2:86558400-86560800	Enhancers	Fetal Heart	heart
20	chr2:86558600-86559600	Weak transcription	Fetal Brain Female	brain
21	chr2:86558600-86562200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:86558600-86563000	Weak transcription	Pancreas	Pancrea

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