Variant report

Variant	rs4271996
Chromosome Location	chr4:22513766-22513767
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22503270..22505334-chr4:22512826..22515443,2	MCF-7	breast:
2	chr4:22507819..22511270-chr4:22511320..22514443,4	MCF-7	breast:
3	chr4:22512371..22514694-chr4:22515547..22518981,4	MCF-7	breast:
4	chr4:22508358..22510140-chr4:22512148..22515141,2	MCF-7	breast:
5	chr4:22508191..22514199-chr4:22515176..22519559,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58471362	0.82[ASN][1000 genomes]
rs61793374	0.83[EUR][1000 genomes]
rs61793403	0.83[EUR][1000 genomes]
rs61793414	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61793415	0.82[ASN][1000 genomes]
rs61793416	0.82[ASN][1000 genomes]
rs61793417	0.82[ASN][1000 genomes]
rs61793421	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821091	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664692	0.82[ASN][1000 genomes]
rs7679108	0.82[ASN][1000 genomes]
rs7691588	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
3	chr4:22502200-22515600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:22502800-22515600	Weak transcription	Fetal Kidney	kidney
5	chr4:22503200-22515600	Weak transcription	NHDF-Ad	bronchial
6	chr4:22504000-22514200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:22504800-22514200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:22505000-22515200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:22505400-22515400	Weak transcription	A549	lung
10	chr4:22505600-22515600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:22506400-22513800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:22506600-22515800	Weak transcription	Aorta	Aorta
13	chr4:22507000-22515200	Weak transcription	HSMM	muscle
14	chr4:22507400-22515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:22507600-22516200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:22508000-22514400	Weak transcription	Ovary	ovary
17	chr4:22508000-22516200	Weak transcription	Small Intestine	intestine
18	chr4:22508400-22516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:22508600-22515800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:22509400-22514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:22509400-22515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:22509600-22514200	Weak transcription	NH-A	brain
23	chr4:22509600-22514200	Weak transcription	Osteobl	bone
24	chr4:22509600-22515400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:22509600-22515600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:22509800-22514200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:22509800-22515600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:22509800-22515800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:22510400-22515000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:22510400-22515200	Weak transcription	Fetal Lung	lung
31	chr4:22510400-22516000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:22510400-22516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:22510600-22514400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:22510600-22514400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:22510600-22515000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:22510600-22515000	Weak transcription	HMEC	breast
37	chr4:22510600-22515200	Weak transcription	Hela-S3	cervix
38	chr4:22510600-22515400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:22510600-22515800	Weak transcription	Adipose Nuclei	Adipose
40	chr4:22510800-22514200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:22510800-22514200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:22510800-22514200	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:22510800-22514200	Weak transcription	Psoas Muscle	Psoas
44	chr4:22510800-22514400	Weak transcription	Lung	lung
45	chr4:22510800-22515400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:22510800-22515400	Weak transcription	NHEK	skin
47	chr4:22510800-22515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:22510800-22515600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:22510800-22515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:22510800-22515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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