Variant report

Variant	rs2647465
Chromosome Location	chr1:220231447-220231448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220229568..220231536-chr1:220233409..220234910,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1146774	0.82[EUR][1000 genomes]
rs2247212	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515501	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7538757	0.84[AMR][1000 genomes]
rs7549576	0.87[AMR][1000 genomes];0.85[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases
5	nsv549222	chr1:220226732-220246392	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220000-220236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:220220200-220231800	Weak transcription	Gastric	stomach
3	chr1:220220200-220232000	Weak transcription	Small Intestine	intestine
4	chr1:220220400-220231600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:220220400-220232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:220220400-220233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:220220400-220236000	Weak transcription	Aorta	Aorta
8	chr1:220220400-220236000	Weak transcription	HSMMtube	muscle
9	chr1:220220400-220238400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:220220400-220240800	Weak transcription	NHDF-Ad	bronchial
11	chr1:220220400-220243600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
13	chr1:220220600-220231800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:220220600-220231800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:220220600-220231800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:220220600-220231800	Weak transcription	Ovary	ovary
17	chr1:220220600-220231800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:220220600-220232800	Weak transcription	NH-A	brain
19	chr1:220220600-220235000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:220220600-220236000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:220220600-220236000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:220220600-220236000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:220220600-220237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:220220600-220237600	Weak transcription	Right Ventricle	heart
25	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
27	chr1:220220600-220262400	Weak transcription	NHLF	lung
28	chr1:220220800-220231600	Weak transcription	Hela-S3	cervix
29	chr1:220220800-220231800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:220220800-220231800	Weak transcription	Osteobl	bone
31	chr1:220220800-220232200	Weak transcription	Colonic Mucosa	Colon
32	chr1:220220800-220232800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:220220800-220235000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:220220800-220236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:220220800-220236000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:220220800-220236000	Weak transcription	Fetal Lung	lung
37	chr1:220220800-220237600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:220220800-220237600	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:220220800-220238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:220220800-220238600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
42	chr1:220221000-220231800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:220221000-220231800	Weak transcription	Esophagus	oesophagus
44	chr1:220221000-220234800	Weak transcription	Primary B cells from cord blood	blood
45	chr1:220221000-220235000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:220221000-220236200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:220221000-220237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:220221400-220232200	Weak transcription	Dnd41	blood
49	chr1:220224000-220240800	Weak transcription	A549	lung
50	chr1:220225800-220234000	Weak transcription	H1 Cell Line	embryonic stem cell

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