Variant report

Variant	rs10001327
Chromosome Location	chr4:148709609-148709610
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	chr4:148706733..148708272-chr4:148709553..148712261,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10027921	0.83[EUR][1000 genomes]
rs10519917	0.81[ASN][1000 genomes]
rs11930432	0.87[EUR][1000 genomes]
rs11935450	0.81[ASN][1000 genomes]
rs11935510	0.81[ASN][1000 genomes]
rs11935620	0.81[ASN][1000 genomes]
rs11938642	0.87[EUR][1000 genomes]
rs11940379	0.81[ASN][1000 genomes]
rs12650280	0.83[EUR][1000 genomes]
rs13116955	0.83[EUR][1000 genomes]
rs17023836	0.87[EUR][1000 genomes]
rs17023845	0.86[ASN][1000 genomes]
rs17023846	0.83[ASN][1000 genomes]
rs17023870	0.81[ASN][1000 genomes]
rs2134707	0.97[ASN][1000 genomes]
rs58068435	1.00[ASN][1000 genomes]
rs58274809	1.00[ASN][1000 genomes]
rs58762227	0.88[ASN][1000 genomes]
rs60042554	0.94[ASN][1000 genomes]
rs6811580	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72955517	0.87[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:148703600-148710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:148704000-148710800	Weak transcription	HUVEC	blood vessel
7	chr4:148704000-148714600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:148706400-148710600	Enhancers	Fetal Heart	heart
9	chr4:148706400-148710600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:148706400-148710600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:148706400-148711000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:148706400-148711000	Enhancers	Fetal Stomach	stomach
13	chr4:148706400-148711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:148706400-148712000	Enhancers	Colon Smooth Muscle	Colon
15	chr4:148706600-148713400	Weak transcription	Thymus	Thymus
16	chr4:148707000-148710400	Enhancers	HSMM	muscle
17	chr4:148707000-148711400	Enhancers	Adipose Nuclei	Adipose
18	chr4:148707000-148711400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:148707000-148711600	Enhancers	Stomach Mucosa	stomach
20	chr4:148707400-148710400	Enhancers	Gastric	stomach
21	chr4:148707400-148710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:148707400-148710800	Enhancers	Right Atrium	heart
23	chr4:148707400-148711000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:148707400-148711000	Enhancers	NHLF	lung
25	chr4:148707400-148711400	Enhancers	Left Ventricle	heart
26	chr4:148707400-148711400	Enhancers	Ovary	ovary
27	chr4:148707600-148710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:148707600-148710000	Weak transcription	Fetal Kidney	kidney
29	chr4:148707600-148710800	Enhancers	GM12878-XiMat	blood
30	chr4:148707800-148710200	Weak transcription	Fetal Thymus	thymus
31	chr4:148707800-148710400	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:148707800-148711600	Enhancers	NHDF-Ad	bronchial
33	chr4:148707800-148714600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:148708000-148713000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:148708200-148710600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:148708400-148710800	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:148708400-148714800	Weak transcription	Small Intestine	intestine
38	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:148708600-148710800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:148708600-148713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:148708800-148710000	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:148708800-148710200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:148708800-148710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:148708800-148711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:148708800-148712800	Weak transcription	Placenta	Placenta
46	chr4:148708800-148713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:148709000-148709800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:148709000-148710200	Weak transcription	Psoas Muscle	Psoas
49	chr4:148709000-148710200	Weak transcription	Right Ventricle	heart
50	chr4:148709000-148712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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