Variant report

Variant	rs4748507
Chromosome Location	chr10:18957845-18957846
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18956344..18959967-chr10:18962484..18965500,3	K562	blood:
2	chr10:18946855..18949588-chr10:18956968..18958606,2	K562	blood:

Variant related genes	Relation type
ENSG00000165997	Chromatin interaction
ENSG00000152487	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10732437	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741120	0.91[EUR][1000 genomes]
rs10741131	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10764587	1.00[ASN][1000 genomes]
rs10764661	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829157	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829199	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917209	1.00[ASN][1000 genomes]
rs1917823	1.00[ASN][1000 genomes]
rs4316423	0.87[EUR][1000 genomes]
rs4338439	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456162	1.00[ASN][1000 genomes]
rs4475830	1.00[ASN][1000 genomes]
rs4606373	1.00[ASN][1000 genomes]
rs4634984	1.00[ASN][1000 genomes]
rs4636555	1.00[ASN][1000 genomes]
rs4748479	1.00[ASN][1000 genomes]
rs4748493	1.00[ASN][1000 genomes]
rs4748494	1.00[ASN][1000 genomes]
rs4748502	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4748504	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748505	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62636215	0.89[ASN][1000 genomes]
rs6482534	1.00[ASN][1000 genomes]
rs6482545	0.89[ASN][1000 genomes]
rs6482546	0.89[ASN][1000 genomes]
rs6482565	0.86[EUR][1000 genomes]
rs6482567	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075678	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077786	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081435	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082235	1.00[ASN][1000 genomes]
rs7084709	0.88[EUR][1000 genomes]
rs7090926	0.89[ASN][1000 genomes]
rs7093907	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095666	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7098721	1.00[ASN][1000 genomes]
rs7099307	1.00[ASN][1000 genomes]
rs7100884	1.00[ASN][1000 genomes]
rs7895709	1.00[ASN][1000 genomes]
rs7895775	1.00[ASN][1000 genomes]
rs7908550	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909552	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911922	1.00[ASN][1000 genomes]
rs7918933	1.00[ASN][1000 genomes]
rs7922241	0.86[AMR][1000 genomes]
rs7923072	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181345	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9731044	0.85[EUR][1000 genomes];1.00[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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv466762	chr10:18932172-18976659	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv550121	chr10:18932172-18976659	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18949400-18973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:18949600-18972000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:18950800-18962400	Weak transcription	Fetal Kidney	kidney
4	chr10:18951000-18961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:18951000-18962400	Weak transcription	Fetal Lung	lung
6	chr10:18951000-18965800	Weak transcription	Colonic Mucosa	Colon
7	chr10:18951000-18966600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:18951000-18967400	Weak transcription	Esophagus	oesophagus
9	chr10:18951000-18971800	Weak transcription	Spleen	Spleen
10	chr10:18951000-18976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:18951200-18964400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:18951400-18962400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:18951400-18962800	Weak transcription	Fetal Brain Male	brain
14	chr10:18951400-18973800	Weak transcription	Aorta	Aorta
15	chr10:18954000-18959400	Weak transcription	Ovary	ovary
16	chr10:18954000-18960200	Weak transcription	Lung	lung
17	chr10:18954000-18966600	Strong transcription	Dnd41	blood
18	chr10:18954400-18962200	Weak transcription	Psoas Muscle	Psoas
19	chr10:18954400-18964400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:18954400-18967200	Weak transcription	Gastric	stomach
21	chr10:18954400-18969200	Weak transcription	Right Ventricle	heart
22	chr10:18954400-18973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:18954600-18959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:18954800-18959800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:18954800-18962800	Weak transcription	K562	blood
26	chr10:18954800-18964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:18955000-18972600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:18955200-18958400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:18955200-18959400	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:18955200-18967600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:18955400-18959400	Weak transcription	Fetal Brain Female	brain
32	chr10:18955400-18969200	Weak transcription	Brain Angular Gyrus	brain
33	chr10:18955600-18966600	Strong transcription	Primary B cells from cord blood	blood
34	chr10:18955600-18966600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:18955600-18968000	Weak transcription	Brain Substantia Nigra	brain
36	chr10:18955800-18960800	Strong transcription	Fetal Thymus	thymus
37	chr10:18955800-18961000	Strong transcription	Fetal Intestine Large	intestine
38	chr10:18955800-18966200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:18955800-18966600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:18956000-18958600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr10:18956000-18966200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr10:18956000-18966200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:18956000-18966600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:18956000-18966800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr10:18956000-18970000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:18956000-18972200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:18956200-18958200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:18956200-18961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:18956200-18973200	Weak transcription	Small Intestine	intestine
50	chr10:18956400-18958200	Strong transcription	HSMM	muscle

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