Variant report

Variant	rs10024194
Chromosome Location	chr4:148670764-148670765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:148670755-148671510	GM12878	blood:	n/a	chr4:148670928-148670942
2	RUNX3	chr4:148670728-148671532	GM12878	blood:	n/a	n/a
3	NFIC	chr4:148670735-148671588	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148665114..148667939-chr4:148668217..148671015,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP165	TF binding region
ENSG00000252951	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10011891	0.83[AMR][1000 genomes]
rs10023419	0.83[AMR][1000 genomes]
rs10029636	0.83[AMR][1000 genomes]
rs10034181	0.83[AMR][1000 genomes]
rs11931510	0.83[AMR][1000 genomes]
rs17023581	0.93[YRI][hapmap];0.85[AMR][1000 genomes]
rs17579029	1.00[CHB][hapmap]
rs28416885	0.83[AMR][1000 genomes]
rs28579791	0.83[AMR][1000 genomes]
rs28676674	0.85[AMR][1000 genomes]
rs58965352	0.83[AMR][1000 genomes]
rs72949798	0.83[AMR][1000 genomes]
rs72951406	0.83[AMR][1000 genomes]
rs72951412	0.83[AMR][1000 genomes]
rs72951422	0.83[AMR][1000 genomes]
rs72951423	0.83[AMR][1000 genomes]
rs72953473	0.83[AMR][1000 genomes]
rs72953477	0.83[AMR][1000 genomes]
rs72953481	0.83[AMR][1000 genomes]
rs72953502	0.83[AMR][1000 genomes]
rs72955506	0.83[AMR][1000 genomes]
rs9993312	0.85[AMR][1000 genomes]
rs9996365	0.83[AMR][1000 genomes]
rs9997304	0.83[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:68 , 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	chr4:148658200-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148663000-148675200	Weak transcription	Fetal Lung	lung
6	chr4:148663200-148670800	Weak transcription	A549	lung
7	chr4:148663200-148674400	Weak transcription	NHLF	lung
8	chr4:148663200-148675200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:148663200-148675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:148663200-148675200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:148663400-148670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:148663400-148670800	Weak transcription	NH-A	brain
13	chr4:148663400-148674600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:148663400-148674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148663400-148674800	Weak transcription	HUVEC	blood vessel
16	chr4:148663400-148675000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:148663400-148675000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:148663400-148675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:148663400-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:148663400-148675000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:148663600-148674200	Weak transcription	Osteobl	bone
22	chr4:148663600-148674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:148663600-148675200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:148664000-148674200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:148664600-148682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:148665600-148670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:148665600-148674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:148665800-148670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:148665800-148670800	Weak transcription	Brain Germinal Matrix	brain
31	chr4:148665800-148680800	Weak transcription	Thymus	Thymus
32	chr4:148666400-148670800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:148666400-148674400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:148666400-148674600	Weak transcription	Lung	lung
35	chr4:148666400-148675000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:148666600-148673800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:148668000-148670800	Weak transcription	Fetal Kidney	kidney
38	chr4:148668400-148670800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:148668400-148675200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:148668600-148670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:148668600-148670800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:148668600-148671000	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:148668600-148671600	Enhancers	Rectal Smooth Muscle	rectum
44	chr4:148668800-148670800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:148669000-148671800	Enhancers	Stomach Mucosa	stomach
46	chr4:148669400-148674800	Weak transcription	HSMMtube	muscle
47	chr4:148669400-148674800	Weak transcription	NHEK	skin
48	chr4:148669400-148675000	Weak transcription	Aorta	Aorta
49	chr4:148669400-148682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:148669600-148671000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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