Variant report

Variant	rs7512137
Chromosome Location	chr1:45494139-45494140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45492852..45494427-chr1:45515259..45518004,2	K562	blood:
2	chr1:45493482..45496377-chr1:45986099..45988990,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2234479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355951	0.87[ASN][1000 genomes]
rs263993	0.87[ASN][1000 genomes]
rs264000	0.87[ASN][1000 genomes]
rs264016	0.87[ASN][1000 genomes]
rs41269097	0.87[ASN][1000 genomes]
rs41269101	0.87[ASN][1000 genomes]
rs41306605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449870	0.87[ASN][1000 genomes]
rs4660292	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474207	0.87[ASN][1000 genomes]
rs506691	0.87[ASN][1000 genomes]
rs638062	0.87[ASN][1000 genomes]
rs6429554	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533668	0.87[ASN][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv3379773	chr1:45494118-45494503	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:45480800-45500600	Weak transcription	HepG2	liver
4	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
5	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
7	chr1:45481200-45510200	Weak transcription	Lung	lung
8	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
10	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
12	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
13	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:45484200-45499800	Weak transcription	Fetal Stomach	stomach
17	chr1:45484400-45499200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:45484600-45494800	Weak transcription	Right Atrium	heart
19	chr1:45484600-45499800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:45484800-45497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:45484800-45499200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:45484800-45499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:45484800-45499800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:45484800-45499800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:45485000-45499800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:45485800-45501400	Weak transcription	Ovary	ovary
27	chr1:45486400-45496600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:45486600-45499200	Weak transcription	Brain Anterior Caudate	brain
29	chr1:45487400-45498600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:45487400-45499200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:45489800-45499800	Weak transcription	Fetal Brain Female	brain
32	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
33	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:45492600-45494600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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