Variant report

Variant	rs734315
Chromosome Location	chr22:33363961-33363962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16991613	1.00[EUR][1000 genomes]
rs2042794	0.81[YRI][hapmap]
rs2081727	0.81[YRI][hapmap]
rs58068804	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58893951	1.00[EUR][1000 genomes]
rs58952697	1.00[EUR][1000 genomes]
rs59860687	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994644	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998666	1.00[EUR][1000 genomes]
rs5998667	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998673	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998675	1.00[EUR][1000 genomes]
rs61499920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284962	1.00[EUR][1000 genomes]
rs7287335	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881911	1.00[EUR][1000 genomes]
rs73881913	1.00[EUR][1000 genomes]
rs73881916	1.00[EUR][1000 genomes]
rs8135048	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8135137	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139676	1.00[EUR][1000 genomes]
rs8139856	1.00[EUR][1000 genomes]
rs8140808	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140988	1.00[EUR][1000 genomes]
rs8141527	1.00[EUR][1000 genomes]
rs8142539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
6	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
7	chr22:33361000-33371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33361200-33368400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:33362200-33364400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:33362200-33365800	Enhancers	Duodenum Mucosa	Duodenum
12	chr22:33362200-33365800	Enhancers	Fetal Intestine Small	intestine
13	chr22:33362200-33366400	Enhancers	Fetal Intestine Large	intestine
14	chr22:33362400-33365800	Enhancers	Liver	Liver
15	chr22:33362800-33364600	Enhancers	Fetal Kidney	kidney
16	chr22:33363000-33364000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr22:33363000-33364200	Enhancers	Rectal Smooth Muscle	rectum
18	chr22:33363000-33364400	Enhancers	Fetal Lung	lung
19	chr22:33363000-33364800	Enhancers	Fetal Stomach	stomach
20	chr22:33363200-33364000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:33363200-33364000	Flanking Active TSS	HepG2	liver
22	chr22:33363200-33364800	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:33363200-33365800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:33363400-33364000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:33363400-33364600	Enhancers	Colon Smooth Muscle	Colon
26	chr22:33363400-33365800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:33363400-33365800	Enhancers	Fetal Heart	heart
28	chr22:33363600-33364000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:33363600-33364000	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:33363600-33364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:33363600-33364200	Enhancers	Right Atrium	heart
32	chr22:33363800-33364000	Enhancers	Brain Hippocampus Middle	brain
33	chr22:33363800-33364000	Enhancers	Left Ventricle	heart
34	chr22:33363800-33364000	Enhancers	Lung	lung
35	chr22:33363800-33364000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr22:33363800-33364600	Enhancers	Pancreas	Pancrea
37	chr22:33363800-33365200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:33363800-33365400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr22:33363800-33365600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr22:33363800-33366800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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