Variant report

Variant	rs2291467
Chromosome Location	chr11:68216756-68216757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68108795..68110881-chr11:68215051..68217783,2	MCF-7	breast:
2	chr11:68214975..68217976-chr11:68221508..68224126,3	K562	blood:
3	chr11:68170884..68173607-chr11:68215077..68217390,2	MCF-7	breast:
4	chr11:68209498..68212492-chr11:68216141..68219004,3	K562	blood:
5	chr11:68210143..68211930-chr11:68216141..68218232,2	K562	blood:
6	chr11:68216085..68219220-chr11:68223663..68227582,3	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10047412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10047482	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10047483	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791981	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896328	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10896329	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896330	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10896331	0.85[AMR][1000 genomes]
rs10896334	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896337	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896338	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896339	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896341	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896342	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896343	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10896346	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10896347	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10896348	0.80[EUR][1000 genomes]
rs11228240	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228251	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11228256	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11228258	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11228262	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11228268	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11228269	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11228276	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11228277	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11228278	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11228284	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11228287	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11228291	0.85[EUR][1000 genomes]
rs11228292	0.85[EUR][1000 genomes]
rs11228293	0.85[EUR][1000 genomes]
rs12271290	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12272917	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12274114	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12277225	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12281742	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12283755	0.81[EUR][1000 genomes]
rs12284933	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12285993	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12294029	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12360903	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12363722	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12364620	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12365160	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12941	0.85[EUR][1000 genomes]
rs1685688	0.85[ASN][1000 genomes]
rs17603185	0.85[EUR][1000 genomes]
rs2155730	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2236708	0.85[EUR][1000 genomes]
rs2282563	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2375639	0.81[ASN][1000 genomes]
rs2375640	0.81[ASN][1000 genomes]
rs3740629	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3740631	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3758643	0.85[EUR][1000 genomes]
rs3824850	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4084149	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4316515	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4988291	0.85[EUR][1000 genomes]
rs510772	0.89[ASN][1000 genomes]
rs55767696	0.81[EUR][1000 genomes]
rs55816191	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55883802	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55953412	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56312530	0.81[ASN][1000 genomes]
rs57502260	0.81[ASN][1000 genomes]
rs587357	0.89[ASN][1000 genomes]
rs59056571	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60212556	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61391279	0.86[EUR][1000 genomes]
rs6591340	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6591341	0.81[EUR][1000 genomes]
rs6591344	0.85[EUR][1000 genomes]
rs66752716	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67005337	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67101048	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67605986	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67947146	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7101691	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7102273	0.81[EUR][1000 genomes]
rs7102898	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7104345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7104877	0.81[EUR][1000 genomes]
rs7106010	0.85[EUR][1000 genomes]
rs7106259	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7106339	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7107622	0.81[EUR][1000 genomes]
rs7109294	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7115374	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7116899	0.81[EUR][1000 genomes]
rs7116994	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7120557	0.87[AMR][1000 genomes]
rs7120635	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7123564	0.85[EUR][1000 genomes]
rs7124078	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7126340	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7127948	0.85[EUR][1000 genomes]
rs73506204	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73516838	0.80[ASN][1000 genomes]
rs73516862	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73518807	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7925275	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7927592	0.81[EUR][1000 genomes]
rs7944870	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs871212	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs948315	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs948316	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv520841	chr11:68199008-68217420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv526402	chr11:68201295-68217420	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
2	chr11:68197400-68217800	Strong transcription	Liver	Liver
3	chr11:68197600-68217800	Strong transcription	Fetal Intestine Large	intestine
4	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:68198800-68227000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:68201000-68227400	Weak transcription	Fetal Brain Male	brain
7	chr11:68201600-68218800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:68205400-68218000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:68206800-68227200	Weak transcription	Fetal Kidney	kidney
10	chr11:68207000-68227400	Weak transcription	Brain Substantia Nigra	brain
11	chr11:68208000-68227200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:68209800-68218400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:68209800-68220200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:68209800-68221200	Weak transcription	NHLF	lung
15	chr11:68209800-68222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:68209800-68222800	Weak transcription	Placenta	Placenta
17	chr11:68210000-68222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:68210000-68223200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:68210200-68217400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:68210400-68222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:68210600-68222200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:68210600-68222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:68210600-68222800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:68211600-68217800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:68212200-68217800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:68212800-68217800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:68212800-68217800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:68212800-68217800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:68212800-68217800	Strong transcription	Gastric	stomach
30	chr11:68213000-68217200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:68213000-68217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:68213200-68217600	Strong transcription	Brain Germinal Matrix	brain
33	chr11:68213400-68218000	Strong transcription	Pancreas	Pancrea
34	chr11:68213800-68218400	Strong transcription	Fetal Brain Female	brain
35	chr11:68214000-68217000	Strong transcription	Left Ventricle	heart
36	chr11:68214000-68217800	Strong transcription	Thymus	Thymus
37	chr11:68214200-68227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:68214600-68217800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:68214600-68218000	Strong transcription	Fetal Lung	lung
40	chr11:68214800-68217800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:68214800-68217800	Strong transcription	Aorta	Aorta
42	chr11:68214800-68218000	Strong transcription	Fetal Stomach	stomach
43	chr11:68214800-68227400	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:68215000-68217000	Strong transcription	Right Ventricle	heart
45	chr11:68215000-68217200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:68215000-68217400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:68215000-68218800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:68215000-68222600	Weak transcription	Stomach Mucosa	stomach
49	chr11:68215200-68217400	Weak transcription	Spleen	Spleen
50	chr11:68215200-68217800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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