Variant report

Variant	rs13009223
Chromosome Location	chr2:153304142-153304143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153191085..153193954-chr2:153302933..153305841,2	MCF-7	breast:
2	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
3	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
4	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12989510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999189	1.00[YRI][hapmap]
rs13003885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011684	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029667	1.00[YRI][hapmap]
rs13033209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831171	0.81[ASN][1000 genomes]
rs34722196	0.90[AFR][1000 genomes]
rs35191034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71417225	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:69 , 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	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153295400-153311000	Weak transcription	Ovary	ovary
7	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153299000-153305200	Enhancers	Brain Angular Gyrus	brain
11	chr2:153299800-153305200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:153300200-153305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:153300400-153305800	Enhancers	Adipose Nuclei	Adipose
14	chr2:153300600-153307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:153300600-153311200	Weak transcription	Lung	lung
16	chr2:153300800-153306600	Enhancers	HepG2	liver
17	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
18	chr2:153301200-153304200	Enhancers	NHDF-Ad	bronchial
19	chr2:153301200-153305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:153301400-153305200	Enhancers	HMEC	breast
21	chr2:153301600-153307200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:153301800-153304600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:153301800-153306200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:153301800-153307200	Weak transcription	Fetal Thymus	thymus
26	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
27	chr2:153302000-153304200	Enhancers	HUVEC	blood vessel
28	chr2:153302000-153305200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:153302400-153305800	Enhancers	NHEK	skin
30	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
32	chr2:153302600-153309200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:153302600-153309800	Weak transcription	Fetal Stomach	stomach
34	chr2:153302800-153304600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:153302800-153305000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:153302800-153305800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
39	chr2:153303000-153304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:153303000-153304400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:153303000-153305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:153303000-153305200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:153303000-153305400	Enhancers	Brain Hippocampus Middle	brain
44	chr2:153303000-153305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
46	chr2:153303200-153304200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:153303200-153304400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:153303200-153304600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:153303200-153304600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:153303200-153305200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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