Variant report

Variant	rs4953724
Chromosome Location	chr2:110456591-110456592
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110448860..110451587-chr2:110455006..110457237,2	MCF-7	breast:
2	chr2:110455483..110458569-chr2:110458609..110461502,6	MCF-7	breast:
3	chr2:110456223..110458678-chr2:110473323..110476138,2	MCF-7	breast:
4	chr2:110371478..110373330-chr2:110455377..110458240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198142	Chromatin interaction
ENSG00000186522	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1554901	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17197569	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34016729	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35451855	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35827406	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35863316	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4953768	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6722392	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110441400-110456600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:110448600-110456600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:110449000-110456600	Weak transcription	Fetal Kidney	kidney
4	chr2:110450000-110456800	Weak transcription	Right Ventricle	heart
5	chr2:110450200-110456600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:110450200-110456600	Weak transcription	Right Atrium	heart
7	chr2:110450400-110456600	Weak transcription	Lung	lung
8	chr2:110450400-110456800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:110451000-110458000	Weak transcription	Spleen	Spleen
10	chr2:110451200-110456600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:110451600-110456800	Weak transcription	Colonic Mucosa	Colon
12	chr2:110451800-110456800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:110451800-110456800	Weak transcription	Aorta	Aorta
14	chr2:110452000-110456600	Weak transcription	Pancreas	Pancrea
15	chr2:110452000-110456600	Weak transcription	NH-A	brain
16	chr2:110452000-110456800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:110452200-110456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:110452200-110456600	Weak transcription	Osteobl	bone
19	chr2:110452200-110457200	Weak transcription	Adipose Nuclei	Adipose
20	chr2:110452400-110456600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:110452400-110456600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:110452600-110456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:110452600-110456600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:110452600-110456800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:110452600-110456800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:110452600-110456800	Weak transcription	Small Intestine	intestine
27	chr2:110452800-110456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:110453000-110456600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:110453000-110456600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:110453200-110456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:110453200-110456600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:110453200-110458000	Weak transcription	Esophagus	oesophagus
33	chr2:110453400-110456600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:110453400-110457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:110455200-110456800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:110455400-110461800	Enhancers	Placenta	Placenta
37	chr2:110455800-110456800	Enhancers	Fetal Intestine Large	intestine
38	chr2:110455800-110461600	Enhancers	Fetal Intestine Small	intestine
39	chr2:110456200-110458600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:110456200-110459200	Enhancers	Hela-S3	cervix
41	chr2:110456400-110456600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:110456400-110456600	Flanking Active TSS	HepG2	liver
43	chr2:110456400-110456600	Enhancers	NHEK	skin
44	chr2:110456400-110456800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:110456400-110456800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:110456400-110457200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:110456400-110457400	Enhancers	Ovary	ovary
48	chr2:110456400-110457600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:110456400-110457600	Enhancers	Left Ventricle	heart
50	chr2:110456400-110458600	Enhancers	Colon Smooth Muscle	Colon

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