Variant report

Variant	rs7121848
Chromosome Location	chr11:45684658-45684659
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	chr11:45672171..45675080-chr11:45682496..45685022,2	K562	blood:

Variant related genes	Relation type
ENSG00000255091	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10742762	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838493	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838494	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838495	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838496	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838497	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038524	1.00[ASN][1000 genomes]
rs11038525	1.00[ASN][1000 genomes]
rs11038528	1.00[ASN][1000 genomes]
rs11038530	1.00[ASN][1000 genomes]
rs11038531	1.00[ASN][1000 genomes]
rs11038533	1.00[ASN][1000 genomes]
rs11038538	1.00[ASN][1000 genomes]
rs11038539	1.00[ASN][1000 genomes]
rs11038543	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038544	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038549	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038550	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038551	0.91[AMR][1000 genomes]
rs11038552	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038559	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038560	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038563	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11038566	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038567	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038568	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038569	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038570	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038571	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038572	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038573	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038575	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038576	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038581	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038582	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038594	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038596	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038598	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038599	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038600	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038601	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038603	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038606	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038615	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362568	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362984	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363116	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12363231	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364128	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364847	1.00[ASN][1000 genomes]
rs12365421	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365436	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365703	1.00[ASN][1000 genomes]
rs12366014	1.00[ASN][1000 genomes]
rs1387058	1.00[ASN][1000 genomes]
rs1447573	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1488677	1.00[ASN][1000 genomes]
rs1562461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724240	1.00[ASN][1000 genomes]
rs17724446	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17786178	1.00[ASN][1000 genomes]
rs17786436	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275597	1.00[ASN][1000 genomes]
rs45627537	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756007	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756011	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4756013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105647	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116428	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895235	1.00[ASN][1000 genomes]
rs72895236	1.00[ASN][1000 genomes]
rs72895273	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896754	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896772	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896789	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898653	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898676	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899255	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72899271	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72899280	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904957	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904980	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904984	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72904993	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904994	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904997	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910675	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910679	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv467870	chr11:45684557-45757401	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv554199	chr11:45684557-45757401	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45678400-45685200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:45679600-45685400	Enhancers	Ovary	ovary
3	chr11:45680000-45688000	Enhancers	Fetal Brain Male	brain
4	chr11:45680200-45686000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45680800-45684800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:45681600-45685600	Weak transcription	Right Atrium	heart
7	chr11:45682000-45686200	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:45682200-45684800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:45682400-45686600	Bivalent Enhancer	Fetal Lung	lung
10	chr11:45682800-45685800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr11:45682800-45685800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr11:45682800-45685800	Enhancers	Lung	lung
13	chr11:45683000-45686200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:45683200-45684800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:45683200-45685200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr11:45683400-45685600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:45683400-45685600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr11:45683400-45686000	Bivalent Enhancer	Placenta	Placenta
19	chr11:45683400-45686200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:45683600-45685800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:45683800-45684800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:45683800-45684800	Weak transcription	Left Ventricle	heart
23	chr11:45683800-45685600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr11:45683800-45685800	Enhancers	A549	lung
25	chr11:45684000-45684800	Enhancers	Right Ventricle	heart
26	chr11:45684000-45684800	Weak transcription	Spleen	Spleen
27	chr11:45684000-45685200	Enhancers	HSMM	muscle
28	chr11:45684000-45685400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr11:45684000-45685600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:45684000-45685800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:45684200-45684800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:45684200-45684800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr11:45684200-45684800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
34	chr11:45684200-45684800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:45684200-45684800	Flanking Active TSS	Dnd41	blood
36	chr11:45684200-45685000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr11:45684200-45685000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr11:45684200-45685000	Flanking Active TSS	NH-A	brain
39	chr11:45684200-45685000	Flanking Active TSS	Osteobl	bone
40	chr11:45684200-45685600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:45684200-45685600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:45684200-45685600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:45684200-45685800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:45684200-45685800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:45684200-45685800	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr11:45684200-45686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:45684200-45686400	Flanking Active TSS	HUVEC	blood vessel
48	chr11:45684400-45685000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr11:45684400-45685400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr11:45684400-45685400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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