Variant report

Variant	rs4695325
Chromosome Location	chr4:48026064-48026065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48016518..48018197-chr4:48024501..48026849,2	K562	blood:
2	chr4:48024660..48026222-chr4:48100298..48102831,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13116684	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13121957	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13140968	0.90[AFR][1000 genomes]
rs13145218	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150783	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13151608	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs224799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321622	0.93[AFR][1000 genomes]
rs321628	0.81[AFR][1000 genomes]
rs321630	0.81[AFR][1000 genomes]
rs321631	0.81[AFR][1000 genomes]
rs321632	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs321634	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs321635	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35085584	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55670663	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6447609	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6812991	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7674929	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs98270	0.82[AFR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4695325	CNGA1	cis	Thyroid	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48026600	Weak transcription	NH-A	brain
2	chr4:48019800-48027600	Weak transcription	Placenta	Placenta
3	chr4:48019800-48030200	Weak transcription	Psoas Muscle	Psoas
4	chr4:48019800-48033800	Weak transcription	Pancreas	Pancrea
5	chr4:48019800-48033800	Weak transcription	Hela-S3	cervix
6	chr4:48019800-48034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:48019800-48034200	Weak transcription	HepG2	liver
8	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
10	chr4:48020000-48026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:48020000-48029200	Weak transcription	GM12878-XiMat	blood
12	chr4:48020400-48027600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:48020600-48026200	Weak transcription	Fetal Heart	heart
14	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
15	chr4:48020800-48026600	Weak transcription	HMEC	breast
16	chr4:48021000-48026400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:48021600-48034200	Weak transcription	Stomach Mucosa	stomach
18	chr4:48021800-48026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:48022200-48029800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:48022600-48026600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:48022800-48026600	Weak transcription	Gastric	stomach
22	chr4:48022800-48026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:48022800-48029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:48023200-48027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:48023400-48026800	Weak transcription	Liver	Liver
26	chr4:48024600-48027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:48024600-48027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:48024800-48026200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:48025000-48026200	Genic enhancers	Fetal Intestine Small	intestine
31	chr4:48025000-48027000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:48025000-48028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:48025200-48026600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:48025400-48026400	Weak transcription	Fetal Intestine Large	intestine
35	chr4:48025400-48035000	Weak transcription	NHEK	skin
36	chr4:48025600-48026400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:48026000-48026200	Enhancers	Placenta Amnion	Placenta Amnion

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