Variant report

Variant	rs3016311
Chromosome Location	chr11:66091814-66091815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66089326..66092230-chr11:66092519..66097068,6	K562	blood:
2	chr11:66083687..66088090-chr11:66090957..66094133,5	K562	blood:
3	chr11:66054004..66059089-chr11:66088488..66094920,9	MCF-7	breast:
4	chr11:66052087..66053610-chr11:66091121..66094110,2	MCF-7	breast:
5	chr11:66055159..66056762-chr11:66090994..66093285,2	K562	blood:
6	chr11:66090714..66092332-chr20:48939411..48940911,2	MCF-7	breast:
7	chr11:66089278..66092280-chr11:66092886..66097368,7	K562	blood:

Variant related genes	Relation type
ENSG00000174851	Chromatin interaction
ENSG00000174807	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11537930	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1190621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190622	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1190623	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211725	0.87[AFR][1000 genomes]
rs1212135	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575699	0.83[ASN][1000 genomes]
rs2016960	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2186596	0.86[ASN][1000 genomes]
rs3016316	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3016317	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814740	0.95[EUR][1000 genomes]
rs4390351	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs56240803	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57004348	0.95[EUR][1000 genomes]
rs58221849	0.95[EUR][1000 genomes]
rs59651473	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950463	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs948360	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv3339891	chr11:66088976-66093674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3016311	RIN1	cis	multi-tissue	Pritchard
rs3016311	RIN1	cis	Whole Blood	GTEx
rs3016311	RP11-867G23.12	cis	Whole Blood	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66086200-66092000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:66086400-66092200	Weak transcription	Lung	lung
5	chr11:66086400-66092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:66086400-66092600	Weak transcription	Colonic Mucosa	Colon
7	chr11:66086600-66092600	Weak transcription	Right Ventricle	heart
8	chr11:66086600-66093600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:66086800-66092200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:66086800-66092400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:66086800-66093200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:66086800-66093600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:66086800-66093600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:66087200-66093400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:66089000-66093400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:66089000-66094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:66089000-66094800	Enhancers	NHDF-Ad	bronchial
19	chr11:66089000-66095000	Enhancers	Adipose Nuclei	Adipose
20	chr11:66089200-66094200	Enhancers	Osteobl	bone
21	chr11:66089200-66097600	Enhancers	NHLF	lung
22	chr11:66089600-66093000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:66089600-66093600	Weak transcription	Psoas Muscle	Psoas
24	chr11:66089600-66093600	Weak transcription	Right Atrium	heart
25	chr11:66089800-66092600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:66090000-66092000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:66090000-66093600	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:66090200-66092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66090200-66092600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:66090200-66092600	Weak transcription	Thymus	Thymus
31	chr11:66090200-66092800	Weak transcription	Primary T cells from cord blood	blood
32	chr11:66090600-66092000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:66090600-66092000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:66090600-66092000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:66090600-66094800	Weak transcription	K562	blood
36	chr11:66090600-66095000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:66090600-66096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66090800-66092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:66090800-66092200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:66090800-66092200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:66091000-66092200	Weak transcription	HMEC	breast
42	chr11:66091200-66092800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:66091400-66096600	Enhancers	Placenta	Placenta
44	chr11:66091600-66093000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:66091600-66095200	Enhancers	Spleen	Spleen
46	chr11:66091600-66096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:66091600-66096600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:66091800-66092200	Weak transcription	Esophagus	oesophagus
49	chr11:66091800-66092200	Enhancers	Hela-S3	cervix
50	chr11:66091800-66092600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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