Variant report

Variant	rs56176323
Chromosome Location	chr2:55830158-55830159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55827514..55830372-chr2:55836467..55838668,2	MCF-7	breast:
2	chr2:55823780..55826552-chr2:55827619..55830389,2	K562	blood:
3	chr2:55828430..55830196-chr2:55843729..55846415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17047130	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187744	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56284959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736128	0.81[EUR][1000 genomes]
rs72801586	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72801589	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72803521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72803548	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72805408	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805410	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72805502	0.96[ASN][1000 genomes]
rs72807612	0.92[ASN][1000 genomes]
rs72807620	0.92[ASN][1000 genomes]
rs72807622	0.92[ASN][1000 genomes]
rs72812166	0.85[ASN][1000 genomes]
rs72812172	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55790200-55842400	Weak transcription	Fetal Brain Male	brain
5	chr2:55790400-55836200	Weak transcription	Fetal Heart	heart
6	chr2:55796800-55842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:55803000-55838800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:55818600-55834400	Weak transcription	Small Intestine	intestine
9	chr2:55818600-55835200	Weak transcription	Psoas Muscle	Psoas
10	chr2:55820200-55831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:55820400-55830400	Strong transcription	Fetal Intestine Large	intestine
12	chr2:55820600-55830600	Strong transcription	Dnd41	blood
13	chr2:55820600-55832000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:55821400-55831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:55822000-55831200	Strong transcription	Fetal Thymus	thymus
16	chr2:55822200-55830600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:55822600-55832400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:55822800-55830400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:55822800-55830400	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:55822800-55830400	Strong transcription	HepG2	liver
21	chr2:55822800-55830800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:55823000-55830400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:55823000-55830600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:55823000-55830600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:55823600-55830400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:55823800-55830400	Strong transcription	Fetal Intestine Small	intestine
27	chr2:55824400-55837400	Weak transcription	Fetal Kidney	kidney
28	chr2:55825200-55830600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:55825400-55830400	Strong transcription	Fetal Lung	lung
30	chr2:55826000-55831200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:55826000-55835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:55826000-55839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:55826000-55841600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:55826200-55830400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:55826200-55830800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:55826200-55831600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:55826200-55836000	Weak transcription	Ovary	ovary
38	chr2:55826200-55842600	Weak transcription	Right Ventricle	heart
39	chr2:55826200-55843000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:55827200-55830400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:55827600-55830200	Strong transcription	K562	blood
42	chr2:55827600-55831200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:55827600-55831400	Strong transcription	Placenta	Placenta
44	chr2:55827800-55830800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:55828000-55830200	Strong transcription	A549	lung
46	chr2:55828000-55830600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:55828000-55831000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:55828200-55830200	Strong transcription	Adipose Nuclei	Adipose
49	chr2:55828200-55830800	Strong transcription	Primary B cells from cord blood	blood
50	chr2:55828200-55830800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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