Variant report

Variant	rs2920849
Chromosome Location	chr2:55345929-55345930
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
2	chr2:55343511..55346556-chr2:55364762..55366710,3	K562	blood:
3	chr2:55344367..55347078-chr2:55367240..55368928,2	K562	blood:
4	chr2:55338720..55340502-chr2:55344452..55346435,2	K562	blood:
5	chr2:55251702..55254676-chr2:55343936..55346646,2	K562	blood:
6	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
7	chr2:55344212..55347124-chr2:55355193..55359491,3	K562	blood:
8	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1444261	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2920846	1.00[AFR][1000 genomes]
rs2920848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920853	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968784	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968785	0.94[EUR][1000 genomes]
rs2968803	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2972061	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4268958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs4530400	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs4672021	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6708596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2920849	FLJ31438	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55339600-55346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55339600-55347000	Weak transcription	Left Ventricle	heart
5	chr2:55339800-55347000	Weak transcription	Lung	lung
6	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
7	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
9	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
12	chr2:55341000-55346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:55341000-55346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:55341000-55346800	Weak transcription	Placenta	Placenta
15	chr2:55341200-55346200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:55341200-55346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:55341200-55347000	Weak transcription	Stomach Mucosa	stomach
18	chr2:55342200-55346200	Enhancers	Hela-S3	cervix
19	chr2:55342200-55347000	Enhancers	HSMMtube	muscle
20	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
21	chr2:55343000-55346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:55343200-55346800	Weak transcription	Right Atrium	heart
23	chr2:55343200-55347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:55343400-55346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:55343400-55347400	Weak transcription	Esophagus	oesophagus
26	chr2:55343600-55346000	Weak transcription	HSMM	muscle
27	chr2:55343600-55346400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:55343600-55346800	Weak transcription	NHLF	lung
29	chr2:55343600-55347400	Weak transcription	NH-A	brain
30	chr2:55343800-55346000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:55344200-55347200	Enhancers	Fetal Muscle Leg	muscle
32	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:55344600-55346000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:55344600-55347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:55344600-55347400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:55344600-55348600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:55345000-55346400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:55345000-55346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:55345200-55346200	Enhancers	Fetal Brain Male	brain
42	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:55345400-55346800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:55345400-55347200	Weak transcription	Right Ventricle	heart
45	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
47	chr2:55345600-55347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:55345600-55347200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:55345600-55347400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:55345600-55348000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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