Variant report

Variant	rs4653670
Chromosome Location	chr1:225956154-225956155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225954078..225956696-chr1:226111952..226114509,2	K562	blood:
2	chr1:225751371..225754365-chr1:225954697..225956574,2	MCF-7	breast:
3	chr1:225952636..225956677-chr1:225957308..225960710,4	K562	blood:
4	chr1:225950565..225952217-chr1:225954253..225956652,2	K562	blood:
5	chr1:225938850..225941091-chr1:225955099..225957514,2	K562	blood:
6	chr1:225834091..225845547-chr1:225952149..225961130,23	MCF-7	breast:
7	chr1:225955657..225958331-chr1:225968298..225970381,2	K562	blood:
8	chr1:225887126..225890075-chr1:225954364..225956171,2	MCF-7	breast:
9	chr1:225956010..225958854-chr1:225963164..225966900,6	MCF-7	breast:
10	chr1:225948785..225952549-chr1:225953599..225956527,4	MCF-7	breast:
11	chr1:225945507..225952186-chr1:225952608..225958481,10	MCF-7	breast:
12	chr1:225838129..225843793-chr1:225950745..225961465,25	MCF-7	breast:
13	chr1:225954921..225956765-chr1:225958660..225961642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000227496	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10915873	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1557092	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126345	0.82[EUR][1000 genomes]
rs4653432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4653666	0.82[EUR][1000 genomes]
rs6659660	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7532460	0.82[EUR][1000 genomes]
rs898848	0.83[EUR][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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225946200-225959800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:225949600-225960400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:225950600-225957200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:225950600-225958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:225952200-225960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
7	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:225953000-225956600	Enhancers	Left Ventricle	heart
9	chr1:225953600-225957600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:225953600-225957800	Enhancers	Placenta	Placenta
11	chr1:225953600-225957800	Enhancers	Fetal Thymus	thymus
12	chr1:225953600-225958400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:225953600-225960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:225953600-225960200	Enhancers	Spleen	Spleen
15	chr1:225953800-225960200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:225954000-225956200	Enhancers	HUVEC	blood vessel
17	chr1:225954000-225956400	Enhancers	Adipose Nuclei	Adipose
18	chr1:225954000-225956600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:225954000-225956800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:225954000-225957000	Enhancers	NH-A	brain
21	chr1:225954000-225957400	Flanking Active TSS	HepG2	liver
22	chr1:225954000-225957400	Enhancers	HMEC	breast
23	chr1:225954000-225957600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:225954000-225960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:225954200-225956200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:225954200-225956200	Enhancers	HSMMtube	muscle
27	chr1:225954200-225956600	Enhancers	Psoas Muscle	Psoas
28	chr1:225954200-225956800	Enhancers	Right Ventricle	heart
29	chr1:225954200-225957200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:225954200-225957200	Enhancers	Esophagus	oesophagus
31	chr1:225954200-225957600	Enhancers	K562	blood
32	chr1:225954200-225957800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:225954200-225958000	Enhancers	Fetal Kidney	kidney
34	chr1:225954200-225961000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:225954400-225956200	Enhancers	Colon Smooth Muscle	Colon
36	chr1:225954400-225956400	Enhancers	Colonic Mucosa	Colon
37	chr1:225954400-225956400	Enhancers	Right Atrium	heart
38	chr1:225954400-225957000	Enhancers	Brain Hippocampus Middle	brain
39	chr1:225954400-225957600	Enhancers	Pancreas	Pancrea
40	chr1:225954400-225958200	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:225954400-225960800	Enhancers	Fetal Stomach	stomach
42	chr1:225954400-225960800	Enhancers	Ovary	ovary
43	chr1:225954600-225956400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:225954600-225956600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:225954600-225957400	Enhancers	Fetal Heart	heart
46	chr1:225954600-225957600	Enhancers	A549	lung
47	chr1:225954800-225956200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:225954800-225956400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:225954800-225956800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:225954800-225964400	Weak transcription	Small Intestine	intestine

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