Variant report

Variant	rs72700806
Chromosome Location	chr1:150504055-150504056
allele	A/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150455998..150457586-chr1:150502008..150504744,2	K562	blood:
2	chr1:150458457..150460926-chr1:150503532..150505765,2	K562	blood:
3	chr1:150501793..150504711-chr1:150513734..150516290,2	K562	blood:
4	chr1:150503877..150505542-chr1:150592615..150595135,2	K562	blood:
5	chr1:150488140..150491206-chr1:150500619..150504753,4	MCF-7	breast:
6	chr1:150486596..150488356-chr1:150502860..150504894,2	K562	blood:
7	chr1:150500611..150502292-chr1:150503281..150505329,2	MCF-7	breast:
8	chr1:150503285..150505539-chr1:150516605..150518473,3	K562	blood:
9	chr1:150459747..150461313-chr1:150503560..150505581,2	MCF-7	breast:
10	chr1:150501374..150507870-chr1:150516377..150523612,9	K562	blood:
11	chr1:150501937..150505214-chr1:150520640..150523168,3	K562	blood:
12	chr1:150500841..150504697-chr1:150532834..150535125,4	MCF-7	breast:
13	chr1:150502838..150505562-chr1:150511108..150512922,2	K562	blood:
14	chr1:150501793..150504711-chr1:150513660..150516290,3	K562	blood:
15	chr1:150503131..150505095-chr1:150506786..150509617,2	MCF-7	breast:
16	chr1:150458185..150460398-chr1:150503191..150505589,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225996	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143382	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11205386	0.86[EUR][1000 genomes]
rs11810419	0.87[ASN][1000 genomes]
rs12129037	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131376	0.97[EUR][1000 genomes]
rs12132918	0.97[EUR][1000 genomes]
rs12134634	0.97[EUR][1000 genomes]
rs1980062	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34848955	0.95[EUR][1000 genomes]
rs58419446	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58585637	0.89[ASN][1000 genomes]
rs66464034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657478	0.89[ASN][1000 genomes]
rs66866430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700804	0.93[EUR][1000 genomes]
rs72700810	0.99[EUR][1000 genomes]
rs73019054	0.87[AFR][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
2	chr1:150500600-150504800	Weak transcription	NHLF	lung
3	chr1:150500600-150505000	Weak transcription	Fetal Stomach	stomach
4	chr1:150500800-150504800	Weak transcription	A549	lung
5	chr1:150500800-150505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:150501400-150504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:150501800-150504800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:150502000-150504200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:150502000-150504200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:150502000-150504200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:150502000-150504200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:150502000-150504200	Weak transcription	Pancreas	Pancrea
13	chr1:150502000-150504200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:150502000-150504200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:150502000-150504200	Weak transcription	HMEC	breast
16	chr1:150502000-150504600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:150502000-150504600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:150502000-150504600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:150502000-150504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:150502000-150504800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:150502000-150504800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:150502000-150504800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:150502000-150504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:150502000-150504800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:150502000-150504800	Weak transcription	Psoas Muscle	Psoas
26	chr1:150502000-150504800	Weak transcription	HSMMtube	muscle
27	chr1:150502000-150504800	Weak transcription	NHEK	skin
28	chr1:150502000-150505000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:150502000-150505000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:150502000-150505200	Weak transcription	Esophagus	oesophagus
31	chr1:150502000-150505200	Weak transcription	Hela-S3	cervix
32	chr1:150502000-150505400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:150502000-150510800	Weak transcription	Aorta	Aorta
34	chr1:150502200-150504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150502200-150504800	Weak transcription	HSMM	muscle
36	chr1:150502200-150505400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:150502200-150506400	Weak transcription	Right Atrium	heart
38	chr1:150502600-150504200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:150502600-150504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:150502600-150504600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:150502600-150504600	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:150502600-150504600	Weak transcription	Osteobl	bone
43	chr1:150502600-150504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:150502600-150504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:150502600-150505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:150502600-150505000	Weak transcription	NHDF-Ad	bronchial
47	chr1:150502600-150505200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:150502800-150504200	Weak transcription	NH-A	brain
49	chr1:150502800-150504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:150503200-150504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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