Variant report

Variant	rs7680867
Chromosome Location	chr4:148707349-148707350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148702279..148704768-chr4:148706718..148708415,3	MCF-7	breast:
2	chr4:148706733..148708272-chr4:148709553..148712261,2	MCF-7	breast:
3	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:
4	chr4:148652741..148654893-chr4:148705162..148708132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000264274	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10006193	0.86[ASN][1000 genomes]
rs10011328	0.86[ASN][1000 genomes]
rs11733543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737828	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12508085	0.80[ASN][1000 genomes]
rs13115978	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17023841	0.87[ASN][1000 genomes]
rs2174220	0.93[ASN][1000 genomes]
rs4490438	0.86[ASN][1000 genomes]
rs56946313	0.86[ASN][1000 genomes]
rs6828600	0.86[ASN][1000 genomes]
rs7669809	0.86[ASN][1000 genomes]
rs7698166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
4	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
7	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:148702000-148707400	Weak transcription	Gastric	stomach
9	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
10	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
15	chr4:148702200-148707400	Weak transcription	Lung	lung
16	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
17	chr4:148703600-148707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:148703600-148708000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:148703600-148710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:148703800-148707400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:148703800-148707400	Weak transcription	Left Ventricle	heart
22	chr4:148703800-148707400	Weak transcription	Ovary	ovary
23	chr4:148703800-148708000	Weak transcription	Small Intestine	intestine
24	chr4:148703800-148708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:148704000-148707400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:148704000-148707400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:148704000-148707400	Weak transcription	NHLF	lung
29	chr4:148704000-148708000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:148704000-148708000	Weak transcription	Osteobl	bone
31	chr4:148704000-148708200	Weak transcription	NH-A	brain
32	chr4:148704000-148708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:148704000-148710800	Weak transcription	HUVEC	blood vessel
34	chr4:148704000-148714600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:148706200-148708800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:148706200-148709200	Enhancers	NHEK	skin
37	chr4:148706400-148707600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:148706400-148707600	Enhancers	Fetal Kidney	kidney
39	chr4:148706400-148707600	Flanking Active TSS	GM12878-XiMat	blood
40	chr4:148706400-148707800	Enhancers	Fetal Thymus	thymus
41	chr4:148706400-148708200	Enhancers	Fetal Lung	lung
42	chr4:148706400-148708400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:148706400-148709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:148706400-148709000	Enhancers	HSMMtube	muscle
45	chr4:148706400-148710600	Enhancers	Fetal Heart	heart
46	chr4:148706400-148710600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:148706400-148710600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:148706400-148711000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:148706400-148711000	Enhancers	Fetal Stomach	stomach
50	chr4:148706400-148711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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