Variant report

Variant	rs11677750
Chromosome Location	chr2:55249482-55249483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55246557..55249520-chr2:55255135..55258063,3	MCF-7	breast:
2	chr2:55245750..55247978-chr2:55249196..55251041,2	MCF-7	breast:
3	chr2:55243678..55249957-chr2:55274888..55279397,9	MCF-7	breast:
4	chr2:55248265..55251849-chr2:55275117..55277756,4	MCF-7	breast:
5	chr2:55247828..55250188-chr2:55272078..55275029,2	K562	blood:
6	chr2:55247845..55251421-chr2:55399362..55401204,3	K562	blood:
7	chr16:89966971..89967831-chr2:55248824..55249699,2	MCF-7	breast:
8	chr2:55242881..55244932-chr2:55247245..55249562,2	K562	blood:
9	chr2:55234040..55237734-chr2:55246769..55250149,4	K562	blood:
10	chr2:55249100..55249700-chr2:55260972..55261897,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11677099	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11894868	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35125350	0.88[EUR][1000 genomes]

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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
2	chr2:55237600-55249600	Weak transcription	Gastric	stomach
3	chr2:55237600-55250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:55237600-55258600	Weak transcription	Ovary	ovary
5	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
6	chr2:55238400-55249600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:55238400-55250800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:55238400-55251200	Weak transcription	Psoas Muscle	Psoas
9	chr2:55238400-55252200	Weak transcription	Fetal Thymus	thymus
10	chr2:55238400-55252400	Weak transcription	Thymus	Thymus
11	chr2:55238400-55253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:55240400-55249800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:55240800-55249600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:55240800-55250200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:55241000-55249600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
17	chr2:55241200-55249600	Weak transcription	Fetal Heart	heart
18	chr2:55241400-55253400	Weak transcription	Fetal Lung	lung
19	chr2:55242000-55252400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:55242200-55249800	Weak transcription	Fetal Brain Male	brain
21	chr2:55242200-55253400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:55242400-55253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:55242400-55258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:55243000-55250000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:55243000-55262400	Weak transcription	Hela-S3	cervix
26	chr2:55243200-55252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:55243800-55259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:55244800-55249600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:55244800-55249600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:55245000-55256000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:55245400-55253400	Weak transcription	Liver	Liver
32	chr2:55245600-55249600	Weak transcription	HepG2	liver
33	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
34	chr2:55245800-55250200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:55246000-55249800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:55246400-55254000	Enhancers	Brain Substantia Nigra	brain
37	chr2:55246600-55249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:55246800-55249600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:55246800-55249800	Weak transcription	HMEC	breast
40	chr2:55246800-55250400	Weak transcription	Osteobl	bone
41	chr2:55246800-55250600	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:55246800-55251200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:55246800-55251600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:55246800-55259800	Weak transcription	NH-A	brain
45	chr2:55247000-55249800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:55247000-55251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:55247200-55251400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:55247200-55252200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:55247400-55252200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:55247600-55251600	Enhancers	HUES48 Cell Line	embryonic stem cell

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