Variant report

Variant	rs73934499
Chromosome Location	chr2:54825402-54825403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54823186..54826195-chr2:54832588..54835705,3	K562	blood:
2	chr2:54806062..54808345-chr2:54823269..54826209,2	MCF-7	breast:
3	chr2:54761267..54763626-chr2:54824184..54826863,2	K562	blood:
4	chr2:54816128..54819257-chr2:54823273..54825897,3	MCF-7	breast:
5	chr2:54824089..54825634-chr2:54854001..54856179,2	MCF-7	breast:
6	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2228366	1.00[AFR][1000 genomes]
rs55874850	1.00[AFR][1000 genomes]
rs56116715	0.90[AFR][1000 genomes]
rs56222220	1.00[AFR][1000 genomes]
rs56275380	0.90[AFR][1000 genomes]
rs56672607	1.00[AFR][1000 genomes]
rs57638221	1.00[AFR][1000 genomes]
rs58085727	1.00[AFR][1000 genomes]
rs59719174	0.95[AFR][1000 genomes]
rs60427184	1.00[AFR][1000 genomes]
rs73934322	0.95[AFR][1000 genomes]
rs73934324	0.95[AFR][1000 genomes]
rs73934328	1.00[AFR][1000 genomes]
rs73934448	1.00[AFR][1000 genomes]
rs73934449	1.00[AFR][1000 genomes]
rs73934491	1.00[AFR][1000 genomes]
rs73934500	1.00[AFR][1000 genomes]
rs73937503	1.00[AFR][1000 genomes]
rs73937508	1.00[AFR][1000 genomes]
rs73937509	1.00[AFR][1000 genomes]
rs73937512	1.00[AFR][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
8	chr2:54817600-54825600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:54817800-54825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:54817800-54826200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:54817800-54826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:54818000-54826200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:54820800-54826000	Weak transcription	Osteobl	bone
14	chr2:54820800-54826200	Weak transcription	Hela-S3	cervix
15	chr2:54822200-54826200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:54822200-54827800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr2:54822200-54828800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:54822200-54833800	Genic enhancers	HepG2	liver
19	chr2:54822400-54825600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:54822400-54825600	Enhancers	Brain Substantia Nigra	brain
21	chr2:54822400-54825600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:54822400-54825800	Enhancers	Pancreas	Pancrea
23	chr2:54822400-54826000	Enhancers	Right Ventricle	heart
24	chr2:54822400-54826400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:54822400-54827600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:54822400-54827800	Enhancers	Colon Smooth Muscle	Colon
27	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
28	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
29	chr2:54822400-54834000	Enhancers	Right Atrium	heart
30	chr2:54822600-54825800	Enhancers	Brain Angular Gyrus	brain
31	chr2:54822600-54826000	Enhancers	Fetal Thymus	thymus
32	chr2:54822600-54826200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:54822600-54826600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:54822600-54827000	Enhancers	K562	blood
35	chr2:54822600-54827200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:54822800-54826200	Enhancers	Left Ventricle	heart
37	chr2:54822800-54827000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:54822800-54831600	Genic enhancers	A549	lung
39	chr2:54823000-54825600	Enhancers	Thymus	Thymus
40	chr2:54823000-54826000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:54823200-54825600	Enhancers	Brain Anterior Caudate	brain
42	chr2:54823200-54825600	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:54823200-54825800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:54823200-54826200	Enhancers	Gastric	stomach
45	chr2:54823200-54831000	Genic enhancers	Fetal Intestine Large	intestine
46	chr2:54823400-54825600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:54823400-54826000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:54823400-54826000	Enhancers	Liver	Liver
49	chr2:54823400-54826200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:54823400-54827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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