Variant report

Variant	rs72709279
Chromosome Location	chr1:175809184-175809185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175808774..175809456-chr16:18801185..18801792,2	Hela-S3	cervix:
2	chr1:175809125..175809850-chr7:100026224..100026797,2	Hela-S3	cervix:
3	chr1:175808786..175809503-chr3:169490459..169491298,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000085274	Chromatin interaction
ENSG00000134419	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10913081	0.82[EUR][1000 genomes]
rs12063716	0.82[EUR][1000 genomes]
rs4652122	0.82[EUR][1000 genomes]
rs4652123	0.82[EUR][1000 genomes]
rs4652124	0.82[EUR][1000 genomes]
rs475143	0.93[EUR][1000 genomes]
rs485654	0.93[EUR][1000 genomes]
rs504748	0.93[EUR][1000 genomes]
rs515031	0.93[EUR][1000 genomes]
rs537560	0.93[EUR][1000 genomes]
rs562631	0.93[EUR][1000 genomes]
rs56807556	0.92[AFR][1000 genomes]
rs57883023	0.82[EUR][1000 genomes]
rs58121069	0.82[EUR][1000 genomes]
rs59691682	0.82[EUR][1000 genomes]
rs61169187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61306614	0.82[EUR][1000 genomes]
rs72709203	0.93[EUR][1000 genomes]
rs72709205	1.00[EUR][1000 genomes]
rs72709207	1.00[EUR][1000 genomes]
rs72709212	1.00[EUR][1000 genomes]
rs72709218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709224	1.00[EUR][1000 genomes]
rs72709226	1.00[EUR][1000 genomes]
rs72709228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709229	1.00[EUR][1000 genomes]
rs72709230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709231	1.00[EUR][1000 genomes]
rs72709233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709236	1.00[EUR][1000 genomes]
rs72709237	1.00[EUR][1000 genomes]
rs72709245	1.00[EUR][1000 genomes]
rs72709246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709250	1.00[EUR][1000 genomes]
rs72709253	1.00[EUR][1000 genomes]
rs72709257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709265	1.00[EUR][1000 genomes]
rs72709266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709270	1.00[EUR][1000 genomes]
rs72709271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72709282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709283	1.00[EUR][1000 genomes]
rs72709285	1.00[EUR][1000 genomes]
rs72709287	1.00[EUR][1000 genomes]
rs72709289	1.00[EUR][1000 genomes]
rs72709290	1.00[EUR][1000 genomes]
rs72709292	1.00[EUR][1000 genomes]
rs72709293	1.00[EUR][1000 genomes]
rs72709295	1.00[EUR][1000 genomes]
rs72709296	1.00[EUR][1000 genomes]
rs72709299	1.00[EUR][1000 genomes]
rs72709300	1.00[EUR][1000 genomes]
rs72709302	1.00[EUR][1000 genomes]
rs72711103	1.00[EUR][1000 genomes]
rs72711105	1.00[EUR][1000 genomes]
rs72711106	1.00[EUR][1000 genomes]
rs72711107	1.00[EUR][1000 genomes]
rs72711108	1.00[EUR][1000 genomes]
rs72711109	1.00[EUR][1000 genomes]
rs72711110	1.00[EUR][1000 genomes]
rs72711111	1.00[EUR][1000 genomes]
rs72711113	1.00[EUR][1000 genomes]
rs72711116	0.93[EUR][1000 genomes]
rs72711117	0.93[EUR][1000 genomes]
rs72711119	0.93[EUR][1000 genomes]
rs72711120	0.93[EUR][1000 genomes]
rs72727638	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175804200-175810600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:175806600-175817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:175808200-175811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:175808600-175809200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:175808600-175809200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:175808600-175809400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:175808800-175809200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175808800-175809200	Enhancers	Adipose Nuclei	Adipose
9	chr1:175808800-175809400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:175808800-175809400	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr1:175808800-175809400	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr1:175808800-175809400	Enhancers	Fetal Stomach	stomach
13	chr1:175808800-175809400	Bivalent/Poised TSS	A549	lung
14	chr1:175808800-175809600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:175808800-175809600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:175808800-175809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175808800-175809600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr1:175808800-175809600	Enhancers	Placenta	Placenta
19	chr1:175808800-175809600	Enhancers	Small Intestine	intestine
20	chr1:175808800-175809600	Flanking Active TSS	HepG2	liver
21	chr1:175808800-175809800	Enhancers	Psoas Muscle	Psoas
22	chr1:175808800-175809800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:175808800-175810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:175808800-175810200	Flanking Active TSS	Hela-S3	cervix
25	chr1:175808800-175811000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:175808800-175812000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:175808800-175812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:175809000-175809200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:175809000-175809200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr1:175809000-175809200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr1:175809000-175809200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:175809000-175809400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:175809000-175809400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:175809000-175809400	Enhancers	Brain Anterior Caudate	brain
35	chr1:175809000-175809400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr1:175809000-175809600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:175809000-175809600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:175809000-175809600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:175809000-175809600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:175809000-175809600	Enhancers	Lung	lung
41	chr1:175809000-175809800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:175809000-175809800	Enhancers	HMEC	breast
43	chr1:175809000-175810200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:175809000-175810800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:175809000-175812000	Enhancers	Fetal Muscle Leg	muscle

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