Variant report

Variant	rs4806152
Chromosome Location	chr19:35886660-35886661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35885135..35886720-chr19:35887964..35890211,2	K562	blood:
2	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16970288	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.95[ASN][1000 genomes]
rs17304625	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301151	0.88[CHB][hapmap]
rs34061253	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4805123	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806144	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806149	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806153	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62109652	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62109656	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62109657	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62109658	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62109659	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv2471	chr19:35837405-35903115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv911625	chr19:35856925-35890205	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911626	chr19:35856925-35896467	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv911627	chr19:35856925-35921266	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv963040	chr19:35871038-35886790	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv9714	chr19:35884836-35887576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4806152	PRX	cis	cerebellum	SCAN
rs4806152	CEACAM21	cis	cerebellum	SCAN
rs4806152	EID2	cis	cerebellum	SCAN
rs4806152	ZNF146	cis	parietal	SCAN
rs4806152	TBCB	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35884200-35890800	Weak transcription	Right Atrium	heart
2	chr19:35886000-35887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:35886200-35887800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:35886200-35887800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:35886400-35886800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:35886400-35887000	Enhancers	Colon Smooth Muscle	Colon
7	chr19:35886600-35886800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35886600-35886800	Enhancers	Brain Angular Gyrus	brain
9	chr19:35886600-35886800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:35886600-35886800	Enhancers	K562	blood
11	chr19:35886600-35887000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:35886600-35887000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:35886600-35887000	Enhancers	Brain Anterior Caudate	brain
14	chr19:35886600-35887000	Enhancers	Brain Hippocampus Middle	brain
15	chr19:35886600-35887000	Enhancers	Fetal Brain Male	brain
16	chr19:35886600-35887000	Enhancers	Fetal Brain Female	brain
17	chr19:35886600-35887000	Enhancers	Fetal Intestine Large	intestine
18	chr19:35886600-35887000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr19:35886600-35887000	Enhancers	Fetal Muscle Leg	muscle
20	chr19:35886600-35887000	Enhancers	Fetal Stomach	stomach
21	chr19:35886600-35887000	Enhancers	Lung	lung
22	chr19:35886600-35887000	Bivalent Enhancer	Hela-S3	cervix
23	chr19:35886600-35887000	Flanking Active TSS	HepG2	liver
24	chr19:35886600-35887200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr19:35886600-35887200	Enhancers	Fetal Lung	lung
26	chr19:35886600-35887200	Enhancers	Placenta	Placenta
27	chr19:35886600-35887200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr19:35886600-35887200	Enhancers	Stomach Mucosa	stomach
29	chr19:35886600-35887200	Enhancers	GM12878-XiMat	blood
30	chr19:35886600-35887600	Enhancers	Fetal Intestine Small	intestine
31	chr19:35886600-35887600	Enhancers	Pancreas	Pancrea
32	chr19:35886600-35888000	Enhancers	Monocytes-CD14+_RO01746	blood

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