Variant report

Variant	rs12417750
Chromosome Location	chr11:100839910-100839911
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1047624	0.95[EUR][1000 genomes]
rs10501968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10791440	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11224511	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11224517	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11224518	0.95[EUR][1000 genomes]
rs11224519	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11224520	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11224525	1.00[AFR][1000 genomes]
rs11224526	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11224528	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11224529	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11224530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12273212	0.95[EUR][1000 genomes]
rs12276190	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12281097	0.87[AFR][1000 genomes]
rs12281543	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12283290	0.95[EUR][1000 genomes]
rs12285336	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12286700	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12286931	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12287226	0.87[AFR][1000 genomes]
rs12290272	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12417295	1.00[CEU][hapmap]
rs12417366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12417367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs12418330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12418450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12418769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12419150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12419214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12419257	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12420453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12420466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12420698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12421386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12422140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17095808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17095820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17095829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17646129	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17646702	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17647068	0.95[EUR][1000 genomes]
rs17647243	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17648451	0.96[EUR][1000 genomes]
rs17648695	0.95[EUR][1000 genomes]
rs17654410	0.95[EUR][1000 genomes]
rs17654633	0.95[EUR][1000 genomes]
rs17659845	0.90[EUR][1000 genomes]
rs17713573	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17726649	0.99[EUR][1000 genomes]
rs17726667	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17726715	0.99[EUR][1000 genomes]
rs17726918	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17727251	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17727449	0.95[EUR][1000 genomes]
rs17727789	0.95[EUR][1000 genomes]
rs17727843	0.95[EUR][1000 genomes]
rs1940220	0.87[EUR][1000 genomes]
rs1940222	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1944432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1944433	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1944434	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1944435	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2155444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2155445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2186784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2186785	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2186786	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2226640	0.96[EUR][1000 genomes]
rs2277275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs473765	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs475432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs479135	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs485269	0.84[CHB][hapmap]
rs497234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs505458	1.00[CHB][hapmap]
rs507858	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs515868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs516873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs533384	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs540866	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs543146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs549510	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs552490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs555825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55952345	0.98[EUR][1000 genomes]
rs56199820	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs563460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs568618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs575734	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs576472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs583415	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60312663	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs634968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs640326	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs658497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6590829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6590831	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs661973	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs668513	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs688146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7114062	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs7130586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7924400	0.87[EUR][1000 genomes]
rs7933033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7948907	0.95[EUR][1000 genomes]
rs7949497	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:100807800-100844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100808000-100846600	Weak transcription	Ovary	ovary
4	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
5	chr11:100810400-100845000	Weak transcription	Primary B cells from cord blood	blood
6	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:100812000-100841000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:100813000-100848600	Weak transcription	A549	lung
9	chr11:100813200-100841400	Weak transcription	Fetal Stomach	stomach
10	chr11:100813200-100846600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:100820400-100841400	Weak transcription	Right Ventricle	heart
12	chr11:100820400-100847000	Weak transcription	Fetal Kidney	kidney
13	chr11:100827200-100840200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:100827400-100846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:100828400-100845400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:100828600-100846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:100828800-100849400	Weak transcription	NHLF	lung
18	chr11:100829000-100849400	Weak transcription	HMEC	breast
19	chr11:100829200-100846800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:100829600-100841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
23	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
24	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:100834200-100842800	Weak transcription	HSMM	muscle
27	chr11:100834400-100840400	Weak transcription	NH-A	brain
28	chr11:100834400-100844600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:100834400-100847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:100834400-100847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:100834800-100847200	Weak transcription	Stomach Mucosa	stomach
33	chr11:100835400-100845200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:100835600-100840800	Weak transcription	Fetal Heart	heart
35	chr11:100835600-100846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:100835800-100846600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:100836400-100840800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:100836400-100841000	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:100836400-100841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:100836400-100844600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:100836400-100846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:100836600-100840600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:100836600-100840800	Weak transcription	Left Ventricle	heart
44	chr11:100836600-100844600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:100836600-100846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:100836600-100846600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:100837000-100841200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:100837200-100840600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:100838000-100844000	Weak transcription	Placenta	Placenta
50	chr11:100838200-100840400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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