Variant report

Variant	rs878654
Chromosome Location	chr22:31716191-31716192
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31715461..31717096-chr22:31720045..31722679,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12160763	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989617	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16989620	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16989623	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16989635	0.88[EUR][1000 genomes]
rs16989638	0.88[EUR][1000 genomes]
rs16989650	0.88[EUR][1000 genomes]
rs17833442	0.80[EUR][1000 genomes]
rs2180142	0.80[EUR][1000 genomes]
rs55997441	1.00[EUR][1000 genomes]
rs56136528	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56314242	0.92[EUR][1000 genomes]
rs56385611	0.88[EUR][1000 genomes]
rs62236168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236171	0.80[EUR][1000 genomes]
rs62236187	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62236215	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62236218	0.84[EUR][1000 genomes]
rs62236223	0.85[EUR][1000 genomes]
rs62236224	0.85[EUR][1000 genomes]
rs62237437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62237446	1.00[EUR][1000 genomes]
rs62239378	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62239379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158601	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160611	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73160614	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9680589	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:31704800-31720200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:31706200-31721000	Weak transcription	HSMMtube	muscle
4	chr22:31708800-31721400	Weak transcription	Ovary	ovary
5	chr22:31709400-31717200	Weak transcription	Thymus	Thymus
6	chr22:31709600-31718600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:31709600-31721200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:31709600-31721200	Weak transcription	HSMM	muscle
9	chr22:31709600-31721800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:31709800-31717000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:31709800-31717200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:31709800-31717200	Weak transcription	Brain Germinal Matrix	brain
13	chr22:31709800-31718200	Weak transcription	Fetal Stomach	stomach
14	chr22:31709800-31719000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:31709800-31720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:31709800-31720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:31709800-31721200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:31709800-31721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31709800-31721200	Weak transcription	Colonic Mucosa	Colon
20	chr22:31709800-31721200	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:31709800-31722200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:31709800-31725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:31710000-31718800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:31710000-31718800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:31710000-31719000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:31710000-31719800	Weak transcription	Fetal Lung	lung
27	chr22:31710000-31720000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31710000-31720000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:31710000-31720400	Weak transcription	Placenta	Placenta
30	chr22:31710000-31720800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:31710000-31721000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:31710000-31721200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:31710000-31721200	Weak transcription	Fetal Kidney	kidney
34	chr22:31710000-31721200	Weak transcription	Left Ventricle	heart
35	chr22:31710000-31721200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:31710000-31722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:31710000-31722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31710000-31722600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:31710000-31722600	Weak transcription	Stomach Mucosa	stomach
40	chr22:31710000-31723000	Weak transcription	NHEK	skin
41	chr22:31710000-31724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
43	chr22:31711600-31717400	Weak transcription	Fetal Intestine Small	intestine
44	chr22:31711600-31719800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr22:31711800-31717000	Weak transcription	Fetal Brain Female	brain
46	chr22:31711800-31717400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:31711800-31718000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr22:31712000-31716400	Weak transcription	Primary T cells from cord blood	blood
49	chr22:31712000-31717600	Weak transcription	Primary B cells from cord blood	blood
50	chr22:31712000-31718000	Weak transcription	Primary T cells fromperipheralblood	blood

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