Variant report

Variant	rs2473912
Chromosome Location	chr11:34206148-34206149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34199620..34202889-chr11:34205068..34208989,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1883962	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467377	0.96[ASN][1000 genomes]
rs2473901	0.96[ASN][1000 genomes]
rs2473904	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473909	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473910	0.96[ASN][1000 genomes]
rs2473913	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs910255	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666645	0.85[ASN][1000 genomes]
rs967457	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv511473	chr11:34202953-34212883	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34196200-34207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:34196400-34206800	Weak transcription	Gastric	stomach
3	chr11:34196400-34207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:34196600-34206200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:34196600-34207600	Weak transcription	Left Ventricle	heart
6	chr11:34196600-34210200	Weak transcription	HepG2	liver
7	chr11:34196600-34214000	Weak transcription	Stomach Mucosa	stomach
8	chr11:34196800-34206800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:34197000-34207400	Weak transcription	HSMMtube	muscle
10	chr11:34198600-34207000	Weak transcription	NHEK	skin
11	chr11:34198800-34207000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:34199200-34209800	Weak transcription	A549	lung
13	chr11:34199600-34206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34202200-34207200	Weak transcription	HMEC	breast
15	chr11:34202400-34207400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:34202400-34207400	Weak transcription	Fetal Lung	lung
17	chr11:34202400-34214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:34202800-34206200	Weak transcription	Fetal Thymus	thymus
19	chr11:34203000-34224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:34203200-34206200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:34203200-34207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:34203400-34207600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
24	chr11:34203600-34206800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:34203600-34207800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:34203800-34207000	Weak transcription	Fetal Brain Male	brain
27	chr11:34203800-34207200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:34203800-34207600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:34203800-34207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:34203800-34207600	Weak transcription	Right Atrium	heart
31	chr11:34204000-34207400	Weak transcription	Brain Anterior Caudate	brain
32	chr11:34204000-34207600	Weak transcription	Adipose Nuclei	Adipose
33	chr11:34204000-34207600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:34204000-34208000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:34204200-34207600	Weak transcription	Right Ventricle	heart
36	chr11:34204400-34212000	Weak transcription	GM12878-XiMat	blood
37	chr11:34204600-34207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:34204800-34206400	Enhancers	Ovary	ovary
39	chr11:34204800-34206600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr11:34204800-34207800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:34204800-34209000	Enhancers	Fetal Stomach	stomach
42	chr11:34205000-34206200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:34205000-34207000	Enhancers	Liver	Liver
44	chr11:34205200-34206800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:34205200-34209000	Enhancers	Fetal Muscle Leg	muscle
46	chr11:34205400-34207800	Weak transcription	HSMM	muscle
47	chr11:34205600-34206200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:34205600-34206600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr11:34205800-34206400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:34205800-34206400	Enhancers	Fetal Brain Female	brain

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