Variant report

Variant	rs10002113
Chromosome Location	chr4:148667060-148667061
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003056	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10004457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10004995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10005261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016720	1.00[AMR][1000 genomes]
rs10016881	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019799	1.00[AMR][1000 genomes]
rs1436492	1.00[AMR][1000 genomes]
rs17023769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28454186	1.00[AMR][1000 genomes]
rs28510261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516760	1.00[AMR][1000 genomes]
rs7699081	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
4	chr4:148657000-148668600	Weak transcription	Gastric	stomach
5	chr4:148657400-148668600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:148658200-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:148659200-148668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:148660800-148668200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:148663000-148675200	Weak transcription	Fetal Lung	lung
10	chr4:148663200-148670800	Weak transcription	A549	lung
11	chr4:148663200-148674400	Weak transcription	NHLF	lung
12	chr4:148663200-148675200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:148663200-148675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:148663200-148675200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:148663400-148667800	Weak transcription	GM12878-XiMat	blood
16	chr4:148663400-148668000	Weak transcription	Fetal Heart	heart
17	chr4:148663400-148668200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:148663400-148668200	Weak transcription	HSMMtube	muscle
19	chr4:148663400-148668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:148663400-148668600	Weak transcription	Adipose Nuclei	Adipose
21	chr4:148663400-148668600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:148663400-148668600	Weak transcription	NHEK	skin
23	chr4:148663400-148669000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:148663400-148670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:148663400-148670800	Weak transcription	NH-A	brain
26	chr4:148663400-148674600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:148663400-148674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:148663400-148674800	Weak transcription	HUVEC	blood vessel
29	chr4:148663400-148675000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:148663400-148675000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:148663400-148675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:148663400-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:148663400-148675000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:148663600-148674200	Weak transcription	Osteobl	bone
35	chr4:148663600-148674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:148663600-148675200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:148664000-148668600	Weak transcription	HSMM	muscle
39	chr4:148664000-148669800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:148664000-148674200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:148664600-148667800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:148664600-148682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:148665600-148668000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:148665600-148670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:148665600-148674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:148665800-148668600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:148665800-148669800	Weak transcription	Esophagus	oesophagus
48	chr4:148665800-148670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:148665800-148670800	Weak transcription	Brain Germinal Matrix	brain
50	chr4:148665800-148680800	Weak transcription	Thymus	Thymus

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