Variant report

Variant	rs13011684
Chromosome Location	chr2:153301541-153301542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
2	chr2:153296273..153298770-chr2:153299861..153302070,2	K562	blood:
3	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12989510	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831171	0.81[ASN][1000 genomes]
rs35191034	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71417225	1.00[EUR][1000 genomes]
rs71417226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580023	0.81[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:76 , 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	chr2:153289200-153301800	Weak transcription	NH-A	brain
5	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:153293600-153302400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:153295000-153302200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:153295400-153302000	Weak transcription	Fetal Stomach	stomach
9	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:153295400-153311000	Weak transcription	Ovary	ovary
11	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153296000-153301800	Weak transcription	Fetal Brain Male	brain
13	chr2:153297000-153302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:153297000-153302200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:153297200-153301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:153297200-153302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:153297200-153302200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:153297200-153302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:153297400-153302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:153297600-153302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:153298000-153302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:153298000-153304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:153298800-153303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:153299000-153301800	Enhancers	NHEK	skin
27	chr2:153299000-153305200	Enhancers	Brain Angular Gyrus	brain
28	chr2:153299200-153302200	Weak transcription	GM12878-XiMat	blood
29	chr2:153299600-153301800	Enhancers	Left Ventricle	heart
30	chr2:153299600-153303000	Enhancers	Psoas Muscle	Psoas
31	chr2:153299800-153303400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:153299800-153305200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:153300000-153301800	Enhancers	Right Atrium	heart
34	chr2:153300000-153302000	Weak transcription	Hela-S3	cervix
35	chr2:153300000-153302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:153300200-153303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:153300200-153305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:153300400-153301600	Enhancers	Fetal Heart	heart
39	chr2:153300400-153301800	Weak transcription	HSMM	muscle
40	chr2:153300400-153302800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:153300400-153303400	Enhancers	Fetal Lung	lung
42	chr2:153300400-153303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:153300400-153304000	Enhancers	Osteobl	bone
44	chr2:153300400-153305800	Enhancers	Adipose Nuclei	Adipose
45	chr2:153300600-153301600	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:153300600-153301800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:153300600-153301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:153300600-153302800	Enhancers	Colon Smooth Muscle	Colon
49	chr2:153300600-153302800	Enhancers	Fetal Muscle Leg	muscle
50	chr2:153300600-153304000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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