Variant report

Variant	rs6665021
Chromosome Location	chr1:47152520-47152521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:47151645-47152555	HUVEC	blood vessel:	n/a	chr1:47151775-47151786 chr1:47151757-47151770
2	GATA3	chr1:47151698-47152563	SK-N-SH	brain:	n/a	chr1:47151775-47151786 chr1:47151757-47151770

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47131372..47133587-chr1:47151853..47154733,2	MCF-7	breast:
2	chr1:47151853..47154363-chr1:47155084..47157704,2	K562	blood:

Variant related genes	Relation type
EFCAB14	TF binding region
ENSG00000123472	Chromatin interaction
ENSG00000233647	Chromatin interaction
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56789999	0.84[AFR][1000 genomes]
rs57224270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47134600-47153000	Weak transcription	Right Atrium	heart
2	chr1:47134600-47157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:47134800-47152600	Weak transcription	A549	lung
4	chr1:47138000-47157800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:47138200-47152600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:47138200-47159400	Strong transcription	Placenta	Placenta
7	chr1:47138400-47158800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:47138400-47159400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:47138800-47152800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:47138800-47153200	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:47138800-47158600	Strong transcription	Primary B cells from cord blood	blood
12	chr1:47139000-47152800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:47139000-47159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:47139200-47153000	Weak transcription	Fetal Heart	heart
15	chr1:47139200-47153400	Strong transcription	Dnd41	blood
16	chr1:47139200-47159400	Strong transcription	Brain Germinal Matrix	brain
17	chr1:47139200-47159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:47139400-47152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:47139400-47152600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:47139400-47153000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:47139400-47159600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:47139600-47152800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:47139600-47153000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:47139600-47159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:47139800-47152800	Strong transcription	Osteobl	bone
26	chr1:47140000-47155400	Strong transcription	HSMM	muscle
27	chr1:47141200-47157800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:47142000-47153000	Strong transcription	Liver	Liver
30	chr1:47142000-47159400	Strong transcription	K562	blood
31	chr1:47142000-47159800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:47142400-47158000	Strong transcription	HMEC	breast
33	chr1:47142600-47158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:47142600-47159200	Strong transcription	GM12878-XiMat	blood
35	chr1:47142600-47159400	Strong transcription	NHEK	skin
36	chr1:47142800-47152600	Strong transcription	Fetal Lung	lung
37	chr1:47142800-47158800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:47142800-47159600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:47142800-47159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:47143200-47153600	Strong transcription	Brain Angular Gyrus	brain
41	chr1:47143200-47159400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:47143200-47159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:47143200-47159800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:47143600-47158400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:47143600-47159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:47143800-47158200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:47143800-47159400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:47143800-47159400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:47143800-47159800	Strong transcription	Primary T cells from cord blood	blood
50	chr1:47143800-47171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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