Variant report

Variant	rs73833253
Chromosome Location	chr4:102092056-102092057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102090213..102092693-chr4:102253077..102255174,2	MCF-7	breast:
2	chr4:102091067..102093377-chr4:102267851..102271063,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138814	Chromatin interaction
ENSG00000254531	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10024318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28406782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28414287	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532678	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28599683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28624713	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28678322	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55633921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6838341	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833261	1.00[EUR][1000 genomes]
rs73833264	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833265	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833268	1.00[EUR][1000 genomes]
rs73833269	1.00[EUR][1000 genomes]
rs73833270	1.00[EUR][1000 genomes]
rs73833271	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7653943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7662565	1.00[EUR][1000 genomes]
rs7676124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9686022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9990724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102078400-102093200	Weak transcription	HUVEC	blood vessel
2	chr4:102078400-102096600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:102078800-102096000	Weak transcription	Ovary	ovary
4	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:102079800-102096400	Weak transcription	Adipose Nuclei	Adipose
6	chr4:102080000-102092200	Weak transcription	NHDF-Ad	bronchial
7	chr4:102080000-102092600	Weak transcription	NH-A	brain
8	chr4:102080600-102093000	Weak transcription	NHLF	lung
9	chr4:102080600-102100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:102083000-102096200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:102083200-102096800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:102084200-102103400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:102085400-102094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:102085600-102096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:102087600-102093200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:102087600-102096400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:102087800-102092400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:102088000-102094400	Enhancers	A549	lung
19	chr4:102088200-102093000	Enhancers	Stomach Mucosa	stomach
20	chr4:102088400-102093000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:102088800-102094800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:102089000-102097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:102089200-102092600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:102089200-102097000	Weak transcription	Psoas Muscle	Psoas
25	chr4:102089200-102097200	Weak transcription	Pancreas	Pancrea
26	chr4:102089600-102092600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:102089800-102092800	Weak transcription	NHEK	skin
28	chr4:102089800-102093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:102089800-102095800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:102089800-102097200	Weak transcription	Gastric	stomach
31	chr4:102090200-102092800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:102090400-102092600	Weak transcription	Small Intestine	intestine
33	chr4:102090400-102103800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:102090600-102092800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:102090600-102095800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:102090800-102092200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:102090800-102092600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:102090800-102093400	Weak transcription	Brain Anterior Caudate	brain
39	chr4:102090800-102094200	Weak transcription	Brain Substantia Nigra	brain
40	chr4:102090800-102095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:102090800-102099400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:102090800-102112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:102090800-102114400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:102091000-102092200	Weak transcription	HepG2	liver
45	chr4:102091000-102092200	Weak transcription	HMEC	breast
46	chr4:102091000-102096600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:102091000-102097200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:102091000-102098400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:102091000-102098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:102091200-102095800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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