Variant report

Variant	rs10208770
Chromosome Location	chr2:231034867-231034868
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	chr2:231033479..231035514-chr2:231038836..231041056,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10498244	0.82[CHD][hapmap]
rs1465529	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10208770	ALPI	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231024800-231036400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:231025000-231035000	Weak transcription	Placenta	Placenta
3	chr2:231025000-231035400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:231025000-231036200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:231025000-231036200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:231025000-231036600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:231025000-231036600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:231025000-231036600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:231025000-231036600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:231025000-231040000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:231025400-231035000	Weak transcription	Right Ventricle	heart
12	chr2:231026200-231036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:231026400-231036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:231026400-231041600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:231026400-231041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:231026600-231035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:231026600-231037000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:231026600-231040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:231026600-231041400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:231028200-231036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:231028400-231035000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:231028600-231039600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:231028600-231051200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:231028800-231035400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:231028800-231051600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:231029800-231035400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:231030600-231036200	Weak transcription	Esophagus	oesophagus
29	chr2:231030800-231035000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:231030800-231051000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:231030800-231051000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:231031000-231036400	Weak transcription	Fetal Lung	lung
33	chr2:231031000-231040600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:231031200-231036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:231031200-231049800	Weak transcription	HSMMtube	muscle
36	chr2:231031400-231035000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:231031400-231035000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:231031400-231035000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:231031400-231035200	Strong transcription	Thymus	Thymus
40	chr2:231031400-231051000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:231031400-231051000	Strong transcription	Fetal Thymus	thymus
42	chr2:231031400-231051600	Strong transcription	GM12878-XiMat	blood
43	chr2:231031400-231061200	Strong transcription	Primary B cells from cord blood	blood
44	chr2:231031600-231050800	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:231031600-231052400	Weak transcription	Fetal Brain Male	brain
46	chr2:231031800-231049400	Strong transcription	Liver	Liver
47	chr2:231032200-231035000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:231032400-231035200	Weak transcription	Stomach Mucosa	stomach
49	chr2:231032600-231036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:231032800-231039000	Weak transcription	Left Ventricle	heart

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