Variant report

Variant	rs5994417
Chromosome Location	chr22:32045308-32045309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32041168..32045614-chr22:32055759..32058889,4	MCF-7	breast:
2	chr22:32037396..32038993-chr22:32043702..32046288,2	K562	blood:
3	22:32043914-32050710..22:32860159-32865649	K562	blood:
4	22:32043914-32050710..22:32802848-32805157	GM12878	blood:
5	22:32043914-32050710..22:32338420-32342898	K562	blood:
6	chr22:32044930..32046539-chr22:32340177..32341813,2	MCF-7	breast:
7	chr22:32043778..32046511-chr22:32048746..32051348,2	K562	blood:
8	chr22:32044261..32046374-chr22:32048102..32050237,2	K562	blood:
9	22:32043914-32050710..22:32764253-32784733	K562	blood:
10	22:31864703-31891033..22:32043914-32050710	GM12878	blood:
11	chr22:32043853..32046327-chr22:32047521..32049441,2	MCF-7	breast:
12	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
13	22:32043914-32050710..22:32342898-32343477	GM12878	blood:
14	22:32043914-32050710..22:32264718-32278135	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232218	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000241954	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap]
rs1076674	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs11703040	1.00[CHB][hapmap]
rs11703079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703102	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs11703104	1.00[CHB][hapmap]
rs11703232	1.00[CHB][hapmap]
rs11703275	1.00[CHB][hapmap]
rs11703798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11705235	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs11705329	1.00[CHB][hapmap]
rs12157427	0.89[AMR][1000 genomes]
rs12158002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159673	1.00[CHB][hapmap]
rs12160120	1.00[CHB][hapmap]
rs12160737	0.85[AMR][1000 genomes]
rs12166848	0.82[AMR][1000 genomes]
rs131228	1.00[CHB][hapmap]
rs131235	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs131237	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs131243	1.00[CHB][hapmap]
rs131246	1.00[CHB][hapmap]
rs131252	1.00[CHB][hapmap]
rs131254	1.00[CHB][hapmap]
rs140079	1.00[CHB][hapmap]
rs16989374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989529	1.00[CHB][hapmap]
rs2040981	1.00[CHB][hapmap]
rs28374732	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3747156	1.00[YRI][hapmap]
rs3804088	1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs56406828	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753753	0.89[AMR][1000 genomes]
rs5994424	0.85[AMR][1000 genomes]
rs5998063	0.83[AMR][1000 genomes]
rs5998064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998065	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998066	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs5998068	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs5998070	0.90[AMR][1000 genomes]
rs5998071	0.90[AMR][1000 genomes]
rs5998079	1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs5998080	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs5998081	0.85[AMR][1000 genomes]
rs5998082	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998084	0.89[AMR][1000 genomes]
rs5998085	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs5998089	0.89[AMR][1000 genomes]
rs5998091	0.87[AMR][1000 genomes]
rs5998093	0.87[AMR][1000 genomes]
rs5998095	0.85[AMR][1000 genomes]
rs5998098	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs5998114	1.00[CHB][hapmap]
rs5998133	1.00[CHB][hapmap]
rs5998134	1.00[CHB][hapmap]
rs5998135	1.00[CHB][hapmap]
rs60209974	0.80[AMR][1000 genomes]
rs60669705	0.82[AMR][1000 genomes]
rs62239167	0.90[AMR][1000 genomes]
rs62239186	0.85[AMR][1000 genomes]
rs62239187	0.82[AMR][1000 genomes]
rs62239188	0.87[AMR][1000 genomes]
rs62240684	0.89[AMR][1000 genomes]
rs62240686	0.85[AMR][1000 genomes]
rs62240687	0.85[AMR][1000 genomes]
rs7289259	1.00[CHB][hapmap]
rs740227	0.81[AMR][1000 genomes]
rs8136047	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs8141719	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs8143084	0.89[AMR][1000 genomes]
rs9619221	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9619222	0.82[AMR][1000 genomes]
rs9619224	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs9621307	0.90[AMR][1000 genomes]
rs9621316	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
2	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32035800-32046800	Strong transcription	Fetal Stomach	stomach
4	chr22:32036400-32050000	Weak transcription	Esophagus	oesophagus
5	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
6	chr22:32037400-32046200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr22:32037400-32046800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:32037600-32048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:32037600-32050000	Weak transcription	Psoas Muscle	Psoas
10	chr22:32038000-32046600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr22:32039200-32046400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:32039800-32046400	Genic enhancers	Placenta	Placenta
13	chr22:32040400-32047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:32040600-32046000	Strong transcription	Dnd41	blood
15	chr22:32040600-32046200	Strong transcription	Liver	Liver
16	chr22:32040600-32046400	Strong transcription	Primary T cells from cord blood	blood
17	chr22:32040600-32046400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr22:32040600-32046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:32040600-32046800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:32040600-32047200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:32040800-32046000	Strong transcription	Primary B cells from cord blood	blood
22	chr22:32040800-32046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:32040800-32046800	Strong transcription	Fetal Brain Female	brain
24	chr22:32041000-32045800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:32041400-32045800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:32041400-32056400	Weak transcription	Ovary	ovary
27	chr22:32041600-32057400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:32041800-32047400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:32042000-32046000	Strong transcription	Brain Anterior Caudate	brain
30	chr22:32042000-32046200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:32042000-32046400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr22:32042000-32046800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr22:32042000-32046800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr22:32042000-32046800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:32042200-32045400	Strong transcription	Brain Germinal Matrix	brain
36	chr22:32042200-32045600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:32042200-32046400	Strong transcription	Left Ventricle	heart
38	chr22:32042200-32046800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:32042200-32046800	Strong transcription	Fetal Muscle Leg	muscle
40	chr22:32042400-32046200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:32042400-32046800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:32042400-32046800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr22:32042600-32045400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:32042600-32046200	Strong transcription	Brain Angular Gyrus	brain
45	chr22:32042800-32045400	Strong transcription	Fetal Lung	lung
46	chr22:32042800-32057000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:32043000-32045400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:32043000-32045600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr22:32043000-32046000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr22:32043000-32046200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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