Variant report

Variant	rs60349984
Chromosome Location	chr11:73154729-73154730
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	chr11:73150897..73153271-chr11:73153434..73155963,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10898919	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235738	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235759	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235778	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235779	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11825028	0.89[ASN][1000 genomes]
rs12269884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274589	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12282790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282871	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12288934	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12290367	1.00[ASN][1000 genomes]
rs12290835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56721062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57181830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57536508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57727431	0.81[ASN][1000 genomes]
rs57860998	1.00[AMR][1000 genomes]
rs58342890	1.00[EUR][1000 genomes]
rs59809325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59955477	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59991976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60123349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60674215	1.00[EUR][1000 genomes]
rs60920919	1.00[AMR][1000 genomes]
rs61396858	1.00[EUR][1000 genomes]
rs61613696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131397	1.00[ASN][1000 genomes]
rs9888198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9888218	1.00[ASN][1000 genomes]
rs9971494	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73122400-73163200	Weak transcription	Aorta	Aorta
2	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:73131000-73190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:73132600-73162600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:73137800-73156800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:73138000-73176800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73138200-73157400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:73139200-73177800	Weak transcription	Fetal Thymus	thymus
9	chr11:73141200-73156800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:73141600-73156600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:73141600-73156800	Weak transcription	Primary T cells from cord blood	blood
12	chr11:73141600-73173600	Weak transcription	Pancreas	Pancrea
13	chr11:73141800-73156600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:73141800-73179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:73141800-73181400	Weak transcription	Dnd41	blood
16	chr11:73141800-73183000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
18	chr11:73148000-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:73148600-73157600	Weak transcription	Right Atrium	heart
20	chr11:73150000-73172400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73150000-73175800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:73150400-73157800	Weak transcription	Ovary	ovary
23	chr11:73150400-73157800	Weak transcription	Right Ventricle	heart
24	chr11:73150400-73160600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:73150400-73161000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:73150400-73165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:73150400-73172200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:73150400-73178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:73150600-73154800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:73150600-73154800	Weak transcription	Brain Substantia Nigra	brain
31	chr11:73150600-73155000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73150600-73155200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:73150600-73156800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:73150600-73157000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:73150600-73163400	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:73150600-73163400	Weak transcription	Fetal Stomach	stomach
37	chr11:73150600-73164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:73150800-73155000	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:73150800-73155000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:73150800-73155200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:73150800-73156600	Weak transcription	Brain Anterior Caudate	brain
42	chr11:73150800-73157400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:73151000-73155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:73151000-73155200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73151000-73157600	Weak transcription	Small Intestine	intestine
46	chr11:73151000-73187000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:73151600-73157400	Weak transcription	Psoas Muscle	Psoas
48	chr11:73151600-73157600	Weak transcription	Left Ventricle	heart
49	chr11:73154200-73154800	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:73154400-73155600	Enhancers	Fetal Intestine Small	intestine

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