Variant report

Variant	rs55692468
Chromosome Location	chr2:153361375-153361376
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10931146	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931150	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16831229	0.83[ASN][1000 genomes]
rs2881338	0.83[ASN][1000 genomes]
rs4664111	0.85[ASN][1000 genomes]
rs4664588	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
3	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
4	chr2:153354800-153362000	Weak transcription	Fetal Heart	heart
5	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
6	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
8	chr2:153356600-153361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:153356600-153362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:153357000-153362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
14	chr2:153357200-153361400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:153357200-153365000	Weak transcription	Fetal Stomach	stomach
16	chr2:153357400-153361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:153357400-153364600	Weak transcription	Psoas Muscle	Psoas
18	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
19	chr2:153357600-153365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:153357600-153365200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:153357800-153362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:153358200-153361400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:153358200-153364600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:153358200-153365000	Weak transcription	Fetal Brain Female	brain
25	chr2:153358600-153362200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:153359600-153362000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:153359600-153363000	Enhancers	NHEK	skin
28	chr2:153359600-153364200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:153360000-153361400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:153360000-153363200	Weak transcription	Fetal Kidney	kidney
31	chr2:153360400-153362200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:153360400-153362400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:153360400-153363400	Weak transcription	HepG2	liver
34	chr2:153360400-153365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:153360600-153364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:153360800-153365600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:153361000-153361400	Enhancers	NHLF	lung
38	chr2:153361000-153361800	Enhancers	Brain Anterior Caudate	brain
39	chr2:153361000-153362000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:153361000-153362200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:153361000-153362400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153361000-153362400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:153361000-153362400	Enhancers	HSMMtube	muscle
44	chr2:153361000-153362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:153361000-153364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:153361000-153365600	Enhancers	Osteobl	bone
47	chr2:153361000-153365800	Enhancers	NH-A	brain
48	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:153361200-153361400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:153361200-153361400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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