Variant report

Variant	rs822500
Chromosome Location	chr1:155812054-155812055
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	chr1:155811208..155813165-chr1:155827065..155829841,2	K562	blood:
2	chr1:155811458..155814834-chr1:155821359..155824319,3	K562	blood:

Variant related genes	Relation type
ENSG00000132718	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11803678	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13376121	0.97[EUR][1000 genomes]
rs13376235	0.97[EUR][1000 genomes]
rs1624846	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16837063	0.97[EUR][1000 genomes]
rs17370773	0.95[EUR][1000 genomes]
rs1749415	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1749417	0.84[AMR][1000 genomes]
rs1749421	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1765280	1.00[ASN][1000 genomes]
rs1765284	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2363012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2477541	0.84[AMR][1000 genomes]
rs2686255	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28460554	0.90[AFR][1000 genomes]
rs4253908	0.84[AMR][1000 genomes]
rs4971065	0.97[EUR][1000 genomes]
rs4971106	0.97[EUR][1000 genomes]
rs548809	0.81[AFR][1000 genomes]
rs59706606	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6684460	0.81[AMR][1000 genomes]
rs682020	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs708612	0.84[AMR][1000 genomes]
rs7530726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822016	0.84[AMR][1000 genomes]
rs822018	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822020	0.84[AMR][1000 genomes]
rs822022	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822488	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs822489	0.81[AFR][1000 genomes]
rs822492	1.00[ASN][1000 genomes]
rs822495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822497	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822523	0.97[EUR][1000 genomes]
rs9427223	0.82[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	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
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
2	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
4	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
5	chr1:155790600-155813200	Weak transcription	Gastric	stomach
6	chr1:155791800-155814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:155792200-155814200	Weak transcription	Colonic Mucosa	Colon
8	chr1:155792200-155814800	Weak transcription	HMEC	breast
9	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
10	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
11	chr1:155792400-155814800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:155792600-155813000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:155792600-155813800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:155793400-155814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:155793600-155814600	Weak transcription	HUVEC	blood vessel
19	chr1:155793800-155813600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:155793800-155814600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:155793800-155815000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:155795200-155815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:155796000-155813000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:155796000-155814600	Weak transcription	Brain Germinal Matrix	brain
26	chr1:155796000-155814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:155796200-155813400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:155796600-155813600	Weak transcription	Brain Anterior Caudate	brain
29	chr1:155796800-155812600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:155796800-155813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:155796800-155813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
34	chr1:155797400-155814400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:155797400-155814600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:155798000-155812600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:155798000-155812800	Weak transcription	Lung	lung
38	chr1:155798000-155814400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:155798000-155814800	Weak transcription	Liver	Liver
40	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
41	chr1:155798200-155815000	Weak transcription	Fetal Lung	lung
42	chr1:155799200-155815000	Weak transcription	Fetal Kidney	kidney
43	chr1:155801800-155814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
45	chr1:155804200-155812800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:155804200-155815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:155804400-155813800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:155804400-155814400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:155804400-155814600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:155804400-155814600	Weak transcription	Brain Substantia Nigra	brain

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