Variant report

Variant	rs4748112
Chromosome Location	chr10:5729603-5729604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5486978..5493668-chr10:5725151..5730020,10	MCF-7	breast:
2	chr10:5586412..5588997-chr10:5727556..5730290,2	MCF-7	breast:
3	chr10:5727488..5729665-chr10:5929692..5932614,2	MCF-7	breast:
4	chr10:5727747..5730181-chr10:5782433..5784785,2	K562	blood:
5	chr10:5727335..5729854-chr10:5777449..5779108,2	K562	blood:
6	chr10:5724077..5727016-chr10:5727404..5730062,2	K562	blood:
7	chr10:4911567..4913119-chr10:5727909..5730757,2	K562	blood:
8	chr10:5728149..5729932-chr10:5839231..5841919,2	K562	blood:
9	chr10:5648373..5651329-chr10:5728348..5730813,2	K562	blood:
10	chr10:5728757..5730539-chr10:5931112..5932706,2	K562	blood:
11	chr10:5484441..5486510-chr10:5728306..5731305,2	MCF-7	breast:
12	chr10:5487869..5490146-chr10:5727753..5729878,2	K562	blood:
13	chr10:5488619..5490146-chr10:5727561..5729878,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1418739	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2669138	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4747292	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7900614	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9423934	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9423946	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5726600-5730400	Active TSS	GM12878-XiMat	blood
2	chr10:5727600-5730400	Weak transcription	Spleen	Spleen
3	chr10:5727800-5733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:5728200-5730200	Weak transcription	Pancreas	Pancrea
6	chr10:5728200-5730400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:5728200-5730400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:5728200-5731400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:5728200-5733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:5728200-5733800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:5728200-5733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:5728200-5733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:5728200-5733800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:5728200-5733800	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:5728200-5733800	Weak transcription	Gastric	stomach
16	chr10:5728200-5733800	Weak transcription	Lung	lung
17	chr10:5728200-5734000	Weak transcription	Esophagus	oesophagus
18	chr10:5728200-5734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
20	chr10:5728400-5730400	Weak transcription	Fetal Intestine Small	intestine
21	chr10:5728400-5730800	Enhancers	Primary B cells from cord blood	blood
22	chr10:5728400-5731000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr10:5728400-5731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:5728400-5734400	Weak transcription	HSMM	muscle
25	chr10:5728600-5730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:5728600-5731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr10:5728600-5731400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:5728600-5731400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr10:5728600-5731600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:5728600-5732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:5728600-5732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:5728600-5733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:5728600-5733400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:5728600-5733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:5728600-5733600	Weak transcription	Fetal Heart	heart
36	chr10:5728600-5733800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr10:5728600-5733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:5728600-5733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr10:5728600-5733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:5728600-5733800	Weak transcription	Brain Germinal Matrix	brain
41	chr10:5728600-5733800	Weak transcription	Brain Substantia Nigra	brain
42	chr10:5728600-5733800	Weak transcription	Fetal Thymus	thymus
43	chr10:5728600-5733800	Weak transcription	Psoas Muscle	Psoas
44	chr10:5728600-5734000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:5728600-5734000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:5728600-5734200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr10:5728600-5734200	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:5728600-5734200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr10:5728600-5734200	Weak transcription	Right Ventricle	heart
50	chr10:5728600-5734200	Weak transcription	Stomach Smooth Muscle	stomach

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