Variant report

Variant	rs1247627
Chromosome Location	chr4:74567659-74567660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74564675..74567872-chr4:74591204..74594045,3	MCF-7	breast:
2	chr4:74563007..74566093-chr4:74566214..74569321,4	K562	blood:
3	chr4:74548194..74550025-chr4:74567109..74568772,2	K562	blood:
4	chr4:74562881..74566093-chr4:74566845..74569555,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1247626	1.00[AMR][1000 genomes]
rs1247632	0.83[AMR][1000 genomes]
rs1247686	0.83[AMR][1000 genomes]
rs1269767	0.83[AMR][1000 genomes]
rs1729692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72867114	1.00[AMR][1000 genomes]
rs72867115	1.00[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74564000-74570200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:74564200-74568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:74564400-74568400	Weak transcription	HSMM	muscle
4	chr4:74564400-74569200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:74564600-74570000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:74564800-74569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:74564800-74569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:74564800-74569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:74564800-74569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:74565000-74568200	Weak transcription	HUVEC	blood vessel
11	chr4:74566800-74567800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:74566800-74570600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:74566800-74571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:74566800-74575400	Enhancers	HMEC	breast
16	chr4:74567000-74570000	Enhancers	Hela-S3	cervix
17	chr4:74567000-74570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:74567200-74568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:74567200-74568400	Weak transcription	NHDF-Ad	bronchial
20	chr4:74567200-74569600	Weak transcription	HSMMtube	muscle
21	chr4:74567200-74569800	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:74567200-74570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:74567400-74568400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:74567400-74568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:74567400-74568400	Weak transcription	A549	lung
26	chr4:74567400-74568400	Weak transcription	NH-A	brain
27	chr4:74567400-74568400	Weak transcription	NHLF	lung
28	chr4:74567400-74569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:74567400-74570000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:74567400-74572000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:74567400-74572200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:74567600-74567800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:74567600-74568000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:74567600-74568000	Weak transcription	NHEK	skin
35	chr4:74567600-74568000	Weak transcription	Osteobl	bone
36	chr4:74567600-74568600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:74567600-74569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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