Variant report

Variant	rs12484646
Chromosome Location	chr22:31806377-31806378
allele	G/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31803954-31807204..22:31936958-31958600	GM12878	blood:
2	22:31803954-31807204..22:33208968-33216036	Hela-S3	cervix:
3	22:31803954-31807204..22:31861680-31864703	GM12878	blood:
4	22:31803954-31807204..22:32100847-32102727	GM12878	blood:
5	22:31803954-31807204..22:32150875-32154575	GM12878	blood:
6	22:31803954-31807204..22:32154575-32162110	K562	blood:
7	22:31803954-31807204..22:32304711-32312886	K562	blood:
8	22:31803954-31807204..22:33001296-33002359	Hela-S3	cervix:
9	22:31803954-31807204..22:32255158-32261719	GM12878	blood:
10	22:31803954-31807204..22:32357874-32358849	Hela-S3	cervix:
11	22:31803954-31807204..22:31825585-31829733	K562	blood:
12	22:31803954-31807204..22:32876067-32877399	GM12878	blood:
13	22:31803954-31807204..22:31829733-31836635	K562	blood:
14	22:31803954-31807204..22:32061138-32064448	GM12878	blood:
15	22:31803954-31807204..22:32321495-32324143	GM12878	blood:
16	22:31803954-31807204..22:32137554-32145079	Hela-S3	cervix:
17	22:31803954-31807204..22:32011472-32012966	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197047	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11089501	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11089502	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11089503	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11089504	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12169794	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12485004	1.00[EUR][1000 genomes]
rs12485131	1.00[EUR][1000 genomes]
rs12485176	0.83[AMR][1000 genomes]
rs12485177	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17821132	0.83[AMR][1000 genomes]
rs1968024	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2273248	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2295240	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35208364	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3747155	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5749230	1.00[EUR][1000 genomes]
rs5749235	1.00[EUR][1000 genomes]
rs5749241	1.00[EUR][1000 genomes]
rs5753485	1.00[EUR][1000 genomes]
rs5753561	1.00[EUR][1000 genomes]
rs5753574	1.00[EUR][1000 genomes]
rs58659480	1.00[EUR][1000 genomes]
rs58856347	0.89[ASN][1000 genomes]
rs58915086	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59416609	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73396257	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621247	0.89[ASN][1000 genomes]
rs9621252	0.96[AMR][1000 genomes];0.93[ASN][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	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
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
3	chr22:31796800-31806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31796800-31807000	Weak transcription	Fetal Kidney	kidney
5	chr22:31796800-31807000	Weak transcription	A549	lung
6	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
7	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31797000-31807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:31797000-31812800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
12	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
13	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:31797200-31812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:31797200-31812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:31797200-31814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:31797200-31817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:31797200-31826800	Strong transcription	Liver	Liver
20	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
21	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
25	chr22:31797400-31809200	Weak transcription	Pancreas	Pancrea
26	chr22:31797400-31812800	Strong transcription	Fetal Thymus	thymus
27	chr22:31797400-31813000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31797400-31813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr22:31797600-31812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:31797600-31812800	Strong transcription	Adipose Nuclei	Adipose
33	chr22:31797600-31813000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr22:31797600-31813000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr22:31797800-31812600	Strong transcription	Osteobl	bone
38	chr22:31797800-31813000	Strong transcription	Primary T cells from cord blood	blood
39	chr22:31797800-31821600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:31797800-31832200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr22:31798000-31813200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:31798000-31831800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:31798200-31812800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr22:31798200-31813000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:31798200-31827000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr22:31798200-31831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:31798400-31813000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:31798600-31807800	Strong transcription	Left Ventricle	heart

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