Variant report

Variant	rs7104221
Chromosome Location	chr11:9241448-9241449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9236348..9239167-chr11:9240677..9242772,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10770000	0.97[ASN][1000 genomes]
rs10770001	0.97[ASN][1000 genomes]
rs10770006	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10770008	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs10770010	0.87[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs11042227	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042245	0.82[ASN][1000 genomes]
rs11042267	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs11602591	0.87[AMR][1000 genomes]
rs11608172	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12289113	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12295767	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12296016	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420463	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12577661	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796666	0.85[AMR][1000 genomes]
rs12801814	0.86[AMR][1000 genomes]
rs2133216	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2873069	0.98[ASN][1000 genomes]
rs34446443	0.85[AMR][1000 genomes]
rs34494849	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34716494	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34729888	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35381016	0.86[AMR][1000 genomes]
rs35757766	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35955530	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4369406	0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs5014247	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs61875672	0.87[AMR][1000 genomes]
rs61875673	0.86[AMR][1000 genomes]
rs61877814	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486206	0.90[JPT][hapmap]
rs6486210	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6486215	0.94[ASN][1000 genomes]
rs6486226	0.99[ASN][1000 genomes]
rs6486231	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7109911	0.90[ASN][1000 genomes]
rs7112540	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7114688	0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7115062	0.99[ASN][1000 genomes]
rs7116459	0.93[ASW][hapmap];0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7121013	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs7123342	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]
rs7124178	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7396439	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7482630	0.84[ASN][1000 genomes]
rs770	0.97[ASN][1000 genomes]
rs7924664	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933448	0.96[ASN][1000 genomes]
rs7941520	0.97[ASN][1000 genomes]
rs7951700	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs952374	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956517	0.92[YRI][hapmap]
rs9736263	0.96[ASN][1000 genomes]
rs9888193	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888229	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7104221	CCKBR	cis	cerebellum	SCAN
rs7104221	DNHD1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
2	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
5	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:9233000-9244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:9233000-9248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9233800-9249400	Weak transcription	Pancreas	Pancrea
12	chr11:9236000-9252200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:9236800-9250800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:9237000-9244200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:9237000-9247000	Weak transcription	Right Ventricle	heart
16	chr11:9237000-9249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:9237000-9249800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:9237000-9249800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:9237000-9249800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:9237000-9250000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:9237000-9250200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:9237000-9252200	Weak transcription	NHLF	lung
23	chr11:9237000-9252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:9237200-9251600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:9237400-9252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:9238000-9250400	Weak transcription	HepG2	liver
28	chr11:9238400-9244200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:9238400-9244200	Weak transcription	Left Ventricle	heart
30	chr11:9238400-9244200	Weak transcription	Psoas Muscle	Psoas
31	chr11:9238400-9249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:9238400-9249800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:9238600-9244200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:9238600-9250600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9239600-9241800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:9240000-9241600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:9240200-9252200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:9240600-9241600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:9240600-9241600	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:9240600-9241600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:9240600-9241600	Enhancers	Brain Angular Gyrus	brain
42	chr11:9240600-9241800	Enhancers	Hela-S3	cervix
43	chr11:9240600-9241800	Enhancers	Osteobl	bone
44	chr11:9240800-9241600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:9240800-9241600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:9240800-9241600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:9240800-9241600	Enhancers	A549	lung
48	chr11:9240800-9241800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr11:9240800-9241800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:9241000-9241600	Enhancers	Primary T helper cells PMA-I stimulated	--

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