Variant report

Variant	rs4748099
Chromosome Location	chr10:6536608-6536609
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	chr10:6536042..6540361-chr10:6554431..6558363,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10906712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11259245	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11259372	0.86[AFR][1000 genomes]
rs11259531	1.00[AFR][1000 genomes]
rs11597105	0.89[CHB][hapmap]
rs3793730	0.89[CHB][hapmap]
rs41367851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
4	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:6509200-6541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:6514000-6540000	Weak transcription	Psoas Muscle	Psoas
8	chr10:6517200-6557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:6517600-6539600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:6517600-6541800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:6518200-6556800	Weak transcription	Fetal Intestine Large	intestine
12	chr10:6519200-6544400	Weak transcription	Spleen	Spleen
13	chr10:6521000-6537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:6525800-6539400	Weak transcription	Primary B cells from cord blood	blood
15	chr10:6526600-6553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:6527400-6542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:6528400-6537200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:6528400-6540800	Weak transcription	Brain Angular Gyrus	brain
19	chr10:6528600-6537200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:6529000-6546200	Weak transcription	Esophagus	oesophagus
21	chr10:6529000-6552800	Weak transcription	Lung	lung
22	chr10:6530400-6552600	Weak transcription	K562	blood
23	chr10:6533000-6537000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:6533600-6539800	Weak transcription	Brain Substantia Nigra	brain
25	chr10:6533800-6552800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:6534000-6537400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:6534200-6537200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:6534400-6545800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:6534600-6536800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr10:6535000-6537000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:6535200-6536800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr10:6535200-6537800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr10:6535400-6536800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:6535400-6537800	Genic enhancers	Primary T cells from cord blood	blood
35	chr10:6535400-6553400	Weak transcription	Gastric	stomach
36	chr10:6535600-6536800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:6535600-6536800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr10:6535600-6537400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr10:6535800-6537000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:6535800-6537400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:6535800-6537800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
42	chr10:6535800-6537800	Enhancers	Duodenum Mucosa	Duodenum
43	chr10:6535800-6537800	Enhancers	Small Intestine	intestine
44	chr10:6535800-6538000	Genic enhancers	Fetal Thymus	thymus
45	chr10:6535800-6538000	Genic enhancers	Dnd41	blood
46	chr10:6536000-6537400	Strong transcription	Fetal Stomach	stomach
47	chr10:6536000-6537600	Strong transcription	Pancreas	Pancrea
48	chr10:6536000-6537800	Strong transcription	Brain Hippocampus Middle	brain
49	chr10:6536000-6541400	Strong transcription	Fetal Muscle Leg	muscle
50	chr10:6536200-6536800	Enhancers	NHEK	skin

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