Variant report

Variant	rs11598313
Chromosome Location	chr10:6514195-6514196
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	chr10:6505761..6513673-chr10:6513705..6518581,11	K562	blood:
2	chr10:6512429..6514623-chr10:6584225..6586145,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11593690	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11597105	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793730	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4750523	0.80[ASN][1000 genomes]
rs56269853	0.83[ASN][1000 genomes]
rs72781749	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72781763	0.80[ASN][1000 genomes]
rs72781765	0.96[ASN][1000 genomes]
rs72781771	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7895774	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6493400-6516200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:6496200-6514200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:6496200-6514600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:6498600-6518800	Weak transcription	Fetal Stomach	stomach
7	chr10:6499000-6527800	Weak transcription	Pancreas	Pancrea
8	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
9	chr10:6501600-6527200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:6502200-6518800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:6503000-6533000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:6503200-6516000	Weak transcription	Brain Angular Gyrus	brain
14	chr10:6504200-6517200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:6504400-6518200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:6504600-6524200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:6506000-6515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:6506200-6516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:6506200-6516200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:6506200-6520400	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:6507600-6515400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:6508800-6514200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:6509200-6541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:6509800-6514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:6509800-6517600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:6509800-6533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:6510000-6516000	Weak transcription	Fetal Intestine Large	intestine
28	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:6510400-6514400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:6510400-6516000	Weak transcription	Fetal Intestine Small	intestine
31	chr10:6510800-6516000	Weak transcription	Fetal Kidney	kidney
32	chr10:6511600-6514400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr10:6511800-6514400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:6512200-6514400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:6512200-6514400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:6512400-6514800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:6512800-6515800	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:6513000-6515000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:6513200-6517600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:6513400-6517600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:6513600-6514600	Genic enhancers	Dnd41	blood
42	chr10:6513800-6514200	Enhancers	Fetal Brain Male	brain
43	chr10:6513800-6514400	Genic enhancers	Fetal Thymus	thymus
44	chr10:6513800-6514600	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr10:6513800-6514600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr10:6513800-6514600	Transcr. at gene 5' and 3'	K562	blood
47	chr10:6513800-6514600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr10:6513800-6514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr10:6513800-6515000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:6514000-6514800	Enhancers	Primary T cells from cord blood	blood

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