Variant report

Variant	rs822482
Chromosome Location	chr1:155800913-155800914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155799410..155800938-chr1:155802704..155804564,2	K562	blood:
2	chr1:155798865..155802623-chr1:155880941..155882734,3	K562	blood:

Variant related genes	Relation type
ENSG00000143622	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1094462	0.80[EUR][1000 genomes]
rs11803678	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13374129	0.80[EUR][1000 genomes]
rs13376121	1.00[EUR][1000 genomes]
rs13376235	1.00[EUR][1000 genomes]
rs1624846	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16837037	0.80[EUR][1000 genomes]
rs16837063	1.00[EUR][1000 genomes]
rs17370773	0.97[EUR][1000 genomes]
rs1749415	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1749417	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1749421	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1765284	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2363012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2477541	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2686255	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28460554	0.91[AFR][1000 genomes]
rs28574887	0.80[EUR][1000 genomes]
rs35044707	0.80[EUR][1000 genomes]
rs4253908	0.84[AMR][1000 genomes]
rs4612618	0.80[EUR][1000 genomes]
rs4971065	1.00[EUR][1000 genomes]
rs4971106	1.00[EUR][1000 genomes]
rs56758819	0.80[EUR][1000 genomes]
rs59706606	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59791187	0.80[EUR][1000 genomes]
rs6684460	0.81[AMR][1000 genomes]
rs682020	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs708612	0.84[AMR][1000 genomes]
rs73001021	0.80[EUR][1000 genomes]
rs7530726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822016	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822018	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822019	0.80[EUR][1000 genomes]
rs822020	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822022	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822488	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs822495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822497	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822523	1.00[EUR][1000 genomes]
rs9427223	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
4	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:155786800-155801600	Strong transcription	Fetal Stomach	stomach
6	chr1:155786800-155802400	Strong transcription	Fetal Intestine Small	intestine
7	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
8	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
9	chr1:155790600-155813200	Weak transcription	Gastric	stomach
10	chr1:155791800-155814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:155792200-155803600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:155792200-155803600	Weak transcription	Right Ventricle	heart
13	chr1:155792200-155803600	Weak transcription	Spleen	Spleen
14	chr1:155792200-155803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:155792200-155804000	Weak transcription	Fetal Heart	heart
16	chr1:155792200-155814200	Weak transcription	Colonic Mucosa	Colon
17	chr1:155792200-155814800	Weak transcription	HMEC	breast
18	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
19	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
20	chr1:155792400-155803600	Weak transcription	Ovary	ovary
21	chr1:155792400-155804200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:155792400-155806200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:155792400-155814800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:155792600-155803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:155792600-155813000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:155792600-155813800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:155792800-155806200	Weak transcription	NHEK	skin
30	chr1:155793400-155814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:155793600-155814600	Weak transcription	HUVEC	blood vessel
33	chr1:155793800-155813600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:155793800-155814600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:155793800-155815000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:155794000-155804200	Weak transcription	NHDF-Ad	bronchial
37	chr1:155794200-155802800	Weak transcription	K562	blood
38	chr1:155795000-155803800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:155795200-155802600	Weak transcription	GM12878-XiMat	blood
40	chr1:155795200-155803800	Weak transcription	HSMMtube	muscle
41	chr1:155795200-155815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:155795400-155801400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:155796000-155813000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:155796000-155814600	Weak transcription	Brain Germinal Matrix	brain
46	chr1:155796000-155814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:155796200-155803600	Weak transcription	Brain Substantia Nigra	brain
48	chr1:155796200-155813400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:155796400-155803600	Weak transcription	HepG2	liver
50	chr1:155796400-155804000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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