Variant report

Variant	rs6674896
Chromosome Location	chr1:62802689-62802690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62801173..62802961-chr1:62807029..62808736,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57542320	1.00[EUR][1000 genomes]
rs59888667	1.00[EUR][1000 genomes]
rs60474017	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	nsv871893	chr1:62767953-62819067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv525191	chr1:62773703-62804719	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62799400-62802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:62801200-62804800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:62801200-62805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:62801400-62805400	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:62801600-62805400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:62802000-62803000	Enhancers	Fetal Kidney	kidney
7	chr1:62802200-62802800	Enhancers	Adipose Nuclei	Adipose
8	chr1:62802200-62803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:62802200-62803800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:62802200-62803800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:62802200-62804000	Enhancers	HMEC	breast
12	chr1:62802200-62804000	Enhancers	HSMMtube	muscle
13	chr1:62802200-62804200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:62802200-62804600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:62802200-62805000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:62802200-62805000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr1:62802400-62802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:62802400-62803000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:62802400-62803400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:62802400-62803400	Enhancers	Esophagus	oesophagus
21	chr1:62802400-62803600	Enhancers	Lung	lung
22	chr1:62802400-62803800	Enhancers	Psoas Muscle	Psoas
23	chr1:62802400-62804000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:62802400-62804000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:62802400-62804000	Enhancers	Pancreas	Pancrea
26	chr1:62802400-62804000	Enhancers	Right Ventricle	heart
27	chr1:62802400-62804000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:62802400-62804000	Enhancers	NHEK	skin
29	chr1:62802400-62804200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:62802400-62804400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:62802400-62804400	Enhancers	Right Atrium	heart
32	chr1:62802400-62804400	Enhancers	Spleen	Spleen
33	chr1:62802400-62804600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:62802400-62804600	Enhancers	Placenta	Placenta
35	chr1:62802400-62804800	Enhancers	Left Ventricle	heart
36	chr1:62802400-62805000	Enhancers	Fetal Heart	heart
37	chr1:62802400-62805200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:62802400-62805200	Enhancers	Fetal Stomach	stomach
39	chr1:62802600-62802800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:62802600-62803200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:62802600-62804000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:62802600-62804000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:62802600-62805200	Enhancers	Fetal Lung	lung

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