Variant report

Variant	rs55820735
Chromosome Location	chr2:48113702-48113703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48112256..48114861-chr2:48132079..48134035,2	MCF-7	breast:
2	chr2:48111533..48113899-chr2:48130975..48133874,2	K562	blood:
3	chr2:48111817..48115456-chr2:48131838..48134984,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56320267	1.00[AMR][1000 genomes]
rs72811514	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
4	chr2:48095000-48118200	Weak transcription	NH-A	brain
5	chr2:48095200-48118400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
7	chr2:48095400-48118200	Weak transcription	HMEC	breast
8	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
10	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:48098000-48118400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:48098000-48122400	Weak transcription	Fetal Brain Male	brain
13	chr2:48098200-48115200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:48098200-48115400	Weak transcription	HSMM	muscle
15	chr2:48098400-48117400	Weak transcription	Placenta	Placenta
16	chr2:48098400-48119600	Weak transcription	Liver	Liver
17	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
18	chr2:48098600-48117600	Weak transcription	Left Ventricle	heart
19	chr2:48098600-48119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:48098600-48121000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:48098600-48129000	Weak transcription	Gastric	stomach
22	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
23	chr2:48099000-48118200	Weak transcription	NHDF-Ad	bronchial
24	chr2:48099400-48115800	Weak transcription	Fetal Heart	heart
25	chr2:48099600-48118400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:48099800-48115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:48100400-48115600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:48100600-48121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:48100800-48120600	Weak transcription	K562	blood
31	chr2:48101000-48115400	Weak transcription	HSMMtube	muscle
32	chr2:48101000-48118600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:48101000-48119600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:48101200-48114000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:48101200-48114600	Weak transcription	Lung	lung
36	chr2:48101200-48114600	Weak transcription	Dnd41	blood
37	chr2:48101200-48117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:48101200-48119400	Weak transcription	Psoas Muscle	Psoas
39	chr2:48101200-48123600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:48101400-48114200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:48102400-48118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:48103600-48115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:48107400-48114800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:48107400-48115000	Weak transcription	Small Intestine	intestine
45	chr2:48108600-48115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:48108600-48129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:48109600-48123400	Weak transcription	Hela-S3	cervix
48	chr2:48110200-48114000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:48110200-48114400	Weak transcription	NHEK	skin
50	chr2:48110200-48114600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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