Variant report

Variant	rs28900723
Chromosome Location	chr2:234774205-234774206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234768404..234771123-chr2:234772498..234774550,2	K562	blood:
2	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
3	chr2:234773117..234776003-chr2:234811783..234814431,2	K562	blood:
4	chr2:234766693..234769626-chr2:234773837..234776124,2	MCF-7	breast:
5	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
6	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
7	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
8	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185038	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000072080	Chromatin interaction
ENSG00000242515	Chromatin interaction
ENSG00000243135	Chromatin interaction
ENSG00000241635	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11568316	1.00[AMR][1000 genomes]
rs28900694	0.92[CHB][hapmap]
rs28900714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28900724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28900976	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28900978	0.98[ASN][1000 genomes]
rs28901606	0.80[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28901612	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs28901616	0.88[JPT][hapmap];1.00[AMR][1000 genomes]
rs28901617	0.88[JPT][hapmap]
rs28901623	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs28902471	0.95[ASN][1000 genomes]
rs28948394	0.98[ASN][1000 genomes]
rs3771333	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs45619032	1.00[AMR][1000 genomes]
rs56262514	1.00[ASN][1000 genomes]
rs58339824	0.93[ASN][1000 genomes]
rs60573749	0.93[ASN][1000 genomes]
rs73118753	0.93[ASN][1000 genomes]
rs7591879	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234763800-234774600	Weak transcription	Placenta	Placenta
3	chr2:234763800-234774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:234763800-234775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234763800-234775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234763800-234776600	Weak transcription	Right Ventricle	heart
7	chr2:234764000-234774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234764000-234775200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:234764000-234776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234764000-234776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234764000-234776600	Weak transcription	HUVEC	blood vessel
12	chr2:234764200-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:234764200-234774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:234764200-234774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:234764200-234774800	Weak transcription	Osteobl	bone
16	chr2:234764200-234775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:234764200-234775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:234764200-234776600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:234764200-234776600	Weak transcription	Primary T cells from cord blood	blood
20	chr2:234764200-234776600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:234764200-234776600	Weak transcription	HMEC	breast
22	chr2:234764200-234776600	Weak transcription	NH-A	brain
23	chr2:234764200-234776600	Weak transcription	NHDF-Ad	bronchial
24	chr2:234764200-234776600	Weak transcription	NHEK	skin
25	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:234764400-234774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:234764400-234774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:234764400-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:234764400-234775000	Weak transcription	NHLF	lung
30	chr2:234764400-234776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:234764400-234776600	Weak transcription	HSMM	muscle
32	chr2:234767000-234776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:234767400-234774400	Weak transcription	K562	blood
34	chr2:234771200-234774400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:234771200-234774400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:234771200-234775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:234771200-234776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:234771400-234774400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:234771400-234774400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:234771400-234774800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:234771400-234775000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:234772600-234774400	Strong transcription	A549	lung
43	chr2:234772800-234774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:234773000-234776000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:234773800-234776600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:234774000-234775200	Weak transcription	Gastric	stomach
47	chr2:234774200-234774800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:234774200-234775800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:234774200-234775800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:234774200-234776600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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