Variant report

Variant	rs11800340
Chromosome Location	chr1:213309386-213309387
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	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:
2	chr1:213307189..213309993-chr1:213310511..213313013,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1009264	1.00[AFR][1000 genomes]
rs11799989	1.00[AFR][1000 genomes]
rs11800290	1.00[AFR][1000 genomes]
rs11806969	1.00[AFR][1000 genomes]
rs11809785	1.00[YRI][hapmap]
rs11811328	1.00[AFR][1000 genomes]
rs11811908	0.81[AFR][1000 genomes]
rs17020299	0.81[AFR][1000 genomes]
rs17020350	0.81[AFR][1000 genomes]
rs17020376	1.00[YRI][hapmap]
rs2132429	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7417589	0.81[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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508692	chr1:213309036-213330907	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
6	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
8	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
11	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
16	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:213297800-213309600	Weak transcription	Gastric	stomach
19	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
21	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:213301000-213374800	Weak transcription	HSMM	muscle
23	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
24	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:213306000-213311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:213306200-213309400	Weak transcription	HSMMtube	muscle
30	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:213306800-213309400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:213307600-213309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:213308000-213309600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:213308000-213309600	Enhancers	Brain Angular Gyrus	brain
37	chr1:213308000-213309800	Enhancers	Brain Substantia Nigra	brain
38	chr1:213308000-213310000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:213308200-213309600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:213308200-213309800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:213308200-213309800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:213308200-213309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:213308200-213309800	Enhancers	NHDF-Ad	bronchial
44	chr1:213308200-213309800	Enhancers	Osteobl	bone
45	chr1:213308400-213309800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:213308400-213309800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:213308400-213309800	Enhancers	Brain Hippocampus Middle	brain
48	chr1:213308400-213309800	Enhancers	HUVEC	blood vessel
49	chr1:213308400-213310400	Enhancers	Ovary	ovary
50	chr1:213308400-213311400	Weak transcription	Liver	Liver

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