Variant report

Variant	rs73002264
Chromosome Location	chr2:153302161-153302162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10173899	0.84[ASN][1000 genomes]
rs10179418	0.90[ASN][1000 genomes]
rs10180542	0.87[ASN][1000 genomes]
rs10194603	0.86[ASN][1000 genomes]
rs10432493	0.81[ASN][1000 genomes]
rs13011152	0.90[ASN][1000 genomes]
rs13386403	0.84[ASN][1000 genomes]
rs13390698	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13424038	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13427076	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831169	0.88[ASN][1000 genomes]
rs16831174	0.87[ASN][1000 genomes]
rs2346205	0.84[ASN][1000 genomes]
rs4664589	0.84[ASN][1000 genomes]
rs4664590	0.84[ASN][1000 genomes]
rs58121347	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59965317	0.81[ASN][1000 genomes]
rs6713348	0.91[ASN][1000 genomes]
rs6725661	0.84[ASN][1000 genomes]
rs6737699	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747765	0.91[ASN][1000 genomes]
rs6748954	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73968029	0.88[ASN][1000 genomes]
rs7559217	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7582984	0.82[ASN][1000 genomes]
rs7586195	0.82[ASN][1000 genomes]
rs7587794	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593411	0.81[ASN][1000 genomes]
rs7594969	0.80[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
3	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
4	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:153293600-153302400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:153295000-153302200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:153295400-153311000	Weak transcription	Ovary	ovary
9	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:153297000-153302200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:153297200-153302200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:153297200-153302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:153297400-153302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:153297600-153302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:153298000-153302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:153298000-153304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:153298800-153303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:153299000-153305200	Enhancers	Brain Angular Gyrus	brain
21	chr2:153299200-153302200	Weak transcription	GM12878-XiMat	blood
22	chr2:153299600-153303000	Enhancers	Psoas Muscle	Psoas
23	chr2:153299800-153303400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:153299800-153305200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:153300000-153302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:153300200-153303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:153300200-153305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:153300400-153302800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:153300400-153303400	Enhancers	Fetal Lung	lung
30	chr2:153300400-153303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:153300400-153304000	Enhancers	Osteobl	bone
32	chr2:153300400-153305800	Enhancers	Adipose Nuclei	Adipose
33	chr2:153300600-153302800	Enhancers	Colon Smooth Muscle	Colon
34	chr2:153300600-153302800	Enhancers	Fetal Muscle Leg	muscle
35	chr2:153300600-153304000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:153300600-153307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:153300600-153311200	Weak transcription	Lung	lung
38	chr2:153300800-153302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:153300800-153302600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:153300800-153303400	Enhancers	Fetal Brain Female	brain
41	chr2:153300800-153306600	Enhancers	HepG2	liver
42	chr2:153301000-153302200	Enhancers	A549	lung
43	chr2:153301000-153303000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr2:153301000-153303200	Enhancers	HSMMtube	muscle
45	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
46	chr2:153301200-153304000	Weak transcription	Right Ventricle	heart
47	chr2:153301200-153304200	Enhancers	NHDF-Ad	bronchial
48	chr2:153301200-153305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:153301400-153302600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:153301400-153303000	Enhancers	HUES6 Cell Line	embryonic stem cell

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