Variant report

Variant	rs517344
Chromosome Location	chr1:10671323-10671324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10662490..10664143-chr1:10669536..10672343,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12047856	0.84[EUR][1000 genomes]
rs12087384	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12090714	0.80[EUR][1000 genomes]
rs12567436	0.84[EUR][1000 genomes]
rs284269	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs284273	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs284281	0.81[ASN][1000 genomes]
rs479407	0.89[ASN][1000 genomes]
rs57853007	0.85[EUR][1000 genomes]
rs59790639	0.85[EUR][1000 genomes]
rs60101188	0.85[EUR][1000 genomes]
rs60257606	0.85[EUR][1000 genomes]
rs72857041	0.82[EUR][1000 genomes]
rs72857049	0.84[EUR][1000 genomes]

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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010424	chr1:10667559-10747891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3450930	chr1:10669115-10671613	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10644200-10683400	Weak transcription	K562	blood
3	chr1:10651400-10672800	Weak transcription	Thymus	Thymus
4	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:10652400-10678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:10655800-10672600	Weak transcription	Right Ventricle	heart
9	chr1:10655800-10677200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:10656200-10675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:10656400-10675000	Weak transcription	GM12878-XiMat	blood
12	chr1:10656800-10687200	Weak transcription	Small Intestine	intestine
13	chr1:10657600-10675400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:10657600-10683200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:10657800-10683600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:10657800-10684200	Weak transcription	Colonic Mucosa	Colon
17	chr1:10658000-10674600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:10658400-10672800	Weak transcription	Gastric	stomach
20	chr1:10658400-10674600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:10658400-10674800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:10658400-10675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:10658400-10678200	Weak transcription	Ovary	ovary
24	chr1:10658400-10688600	Weak transcription	Fetal Lung	lung
25	chr1:10658400-10691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:10658600-10674000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:10658600-10675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:10658600-10678000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:10658800-10678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:10659200-10687800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:10659400-10673800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:10659400-10684400	Weak transcription	Dnd41	blood
33	chr1:10659600-10678400	Weak transcription	Placenta	Placenta
34	chr1:10659600-10683800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:10659800-10674600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:10659800-10676200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:10659800-10690800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:10660000-10674800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:10660000-10682000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:10660000-10683600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:10660000-10684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:10660200-10684400	Weak transcription	NHLF	lung
43	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:10660400-10679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:10660400-10679000	Weak transcription	HMEC	breast
46	chr1:10660400-10683800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:10661000-10672800	Weak transcription	HepG2	liver
48	chr1:10661800-10675600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:10661800-10678200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:10661800-10678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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