Variant report

Variant	rs6662364
Chromosome Location	chr1:226893848-226893849
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226884166..226888758-chr1:226889043..226894194,11	MCF-7	breast:
2	chr1:226891257..226894098-chr1:226898810..226900553,2	K562	blood:
3	chr1:226880308..226883489-chr1:226893060..226896461,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12076039	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078663	1.00[YRI][hapmap]
rs4653463	0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs4653765	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs57646605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58304151	1.00[AMR][1000 genomes]
rs60166938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60541195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100921	1.00[AMR][1000 genomes]
rs73100928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651015	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226886200-226895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226886200-226896000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:226891600-226896000	Weak transcription	Esophagus	oesophagus
4	chr1:226891600-226896200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:226891600-226896200	Weak transcription	Spleen	Spleen
6	chr1:226891600-226896600	Weak transcription	Lung	lung
7	chr1:226891600-226898200	Weak transcription	Gastric	stomach
8	chr1:226891600-226899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:226891600-226900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:226891600-226900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:226891800-226894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:226891800-226894000	Weak transcription	Brain Germinal Matrix	brain
14	chr1:226891800-226894000	Weak transcription	HSMMtube	muscle
15	chr1:226891800-226894200	Weak transcription	Fetal Brain Male	brain
16	chr1:226891800-226894200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:226891800-226894400	Weak transcription	Psoas Muscle	Psoas
18	chr1:226891800-226894400	Weak transcription	Right Atrium	heart
19	chr1:226891800-226894400	Weak transcription	Right Ventricle	heart
20	chr1:226891800-226894400	Weak transcription	NHDF-Ad	bronchial
21	chr1:226891800-226894600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226891800-226894800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr1:226891800-226895200	Weak transcription	HUVEC	blood vessel
24	chr1:226891800-226895400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226891800-226895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:226891800-226895400	Weak transcription	HMEC	breast
27	chr1:226891800-226895800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:226891800-226895800	Weak transcription	NHLF	lung
29	chr1:226891800-226896000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:226891800-226896000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:226891800-226896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:226891800-226896000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:226891800-226896000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:226891800-226896000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:226891800-226896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:226891800-226896000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:226891800-226896000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:226891800-226896000	Weak transcription	Placenta	Placenta
39	chr1:226891800-226896000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:226891800-226896000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:226891800-226896000	Weak transcription	HSMM	muscle
42	chr1:226891800-226896000	Weak transcription	NH-A	brain
43	chr1:226891800-226896000	Weak transcription	Osteobl	bone
44	chr1:226891800-226896200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:226891800-226896200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:226891800-226896200	Weak transcription	Fetal Brain Female	brain
47	chr1:226891800-226896600	Weak transcription	Fetal Heart	heart
48	chr1:226891800-226897000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:226891800-226898600	Weak transcription	Colonic Mucosa	Colon
50	chr1:226891800-226899000	Weak transcription	Ovary	ovary

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