Variant report

Variant	rs5994386
Chromosome Location	chr22:31709146-31709147
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31684965..31688899-chr22:31705650..31709359,6	MCF-7	breast:
2	chr22:31707982..31709625-chr22:31739101..31740843,2	MCF-7	breast:
3	chr22:31707565..31712483-chr22:31737116..31742544,8	MCF-7	breast:
4	chr22:31668479..31670467-chr22:31707850..31710837,2	MCF-7	breast:
5	chr22:31686379..31689152-chr22:31707325..31709569,4	MCF-7	breast:
6	chr22:31688219..31688930-chr22:31709001..31709570,2	MCF-7	breast:
7	chr22:31707932..31710940-chr22:31717264..31720146,3	MCF-7	breast:
8	chr22:31668649..31669493-chr22:31708831..31709531,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11089493	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11089495	0.94[EUR][1000 genomes]
rs11089496	0.88[EUR][1000 genomes]
rs1123705	0.84[EUR][1000 genomes]
rs1138706	0.87[EUR][1000 genomes]
rs11556237	0.81[EUR][1000 genomes]
rs11703005	0.87[EUR][1000 genomes]
rs11703576	0.88[EUR][1000 genomes]
rs11704523	0.81[EUR][1000 genomes]
rs12165685	0.82[ASN][1000 genomes]
rs12168242	0.87[ASN][1000 genomes]
rs12484775	0.81[ASN][1000 genomes]
rs16989469	0.92[EUR][1000 genomes]
rs17220418	0.92[ASN][1000 genomes]
rs17820958	0.87[ASN][1000 genomes]
rs1859677	0.87[ASN][1000 genomes]
rs2057951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073856	0.86[ASN][1000 genomes]
rs2073859	0.86[ASN][1000 genomes]
rs2073860	0.86[ASN][1000 genomes]
rs2073861	0.89[ASN][1000 genomes]
rs2158779	0.94[ASN][1000 genomes]
rs2240424	0.89[ASN][1000 genomes]
rs2240427	0.92[ASN][1000 genomes]
rs2267168	0.85[ASN][1000 genomes]
rs2283882	0.83[ASN][1000 genomes]
rs28678535	0.83[ASN][1000 genomes]
rs28872513	0.83[ASN][1000 genomes]
rs2899161	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3747153	0.86[ASN][1000 genomes]
rs3747154	0.86[ASN][1000 genomes]
rs4293639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837074	0.82[EUR][1000 genomes]
rs56292834	0.84[EUR][1000 genomes]
rs5749230	0.81[ASN][1000 genomes]
rs5749233	0.80[ASN][1000 genomes]
rs5749235	0.81[ASN][1000 genomes]
rs5749236	0.81[ASN][1000 genomes]
rs5749239	0.83[ASN][1000 genomes]
rs5749240	0.84[ASN][1000 genomes]
rs5749241	0.84[ASN][1000 genomes]
rs5749247	0.88[ASN][1000 genomes]
rs5749252	0.94[ASN][1000 genomes]
rs5749255	0.93[ASN][1000 genomes]
rs5749257	0.89[ASN][1000 genomes]
rs5749258	0.86[ASN][1000 genomes]
rs5749262	0.81[ASN][1000 genomes]
rs5753506	0.81[ASN][1000 genomes]
rs5753511	0.81[ASN][1000 genomes]
rs5753512	0.81[ASN][1000 genomes]
rs5753513	0.80[ASN][1000 genomes]
rs5753516	0.83[ASN][1000 genomes]
rs5753519	0.84[ASN][1000 genomes]
rs5753523	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753525	0.85[ASN][1000 genomes]
rs5753526	0.85[ASN][1000 genomes]
rs5753527	0.85[ASN][1000 genomes]
rs5753529	0.85[ASN][1000 genomes]
rs5753532	0.86[ASN][1000 genomes]
rs5753534	0.87[ASN][1000 genomes]
rs5753535	0.85[ASN][1000 genomes]
rs5753540	0.88[ASN][1000 genomes]
rs5753542	0.88[ASN][1000 genomes]
rs5753554	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753555	0.94[ASN][1000 genomes]
rs5753556	0.94[ASN][1000 genomes]
rs5753561	0.94[ASN][1000 genomes]
rs5753566	0.92[ASN][1000 genomes]
rs5753569	0.89[ASN][1000 genomes]
rs5753571	0.88[ASN][1000 genomes]
rs5753572	0.82[ASN][1000 genomes]
rs5753574	0.82[ASN][1000 genomes]
rs5994387	0.96[EUR][1000 genomes]
rs5997921	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997924	0.92[EUR][1000 genomes]
rs5997942	0.89[EUR][1000 genomes]
rs5997948	0.95[EUR][1000 genomes]
rs5997956	0.96[EUR][1000 genomes]
rs5997959	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997965	0.90[EUR][1000 genomes]
rs60459126	0.86[EUR][1000 genomes]
rs713619	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7285027	0.83[EUR][1000 genomes]
rs7285716	0.82[EUR][1000 genomes]
rs7286926	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7287715	0.82[EUR][1000 genomes]
rs7292620	0.83[ASN][1000 genomes]
rs8143159	0.81[EUR][1000 genomes]
rs9619178	0.83[ASN][1000 genomes]
rs9621215	0.81[ASN][1000 genomes]
rs9621226	0.88[ASN][1000 genomes]
rs9621236	0.89[ASN][1000 genomes]
rs9680708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
2	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:31697000-31709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:31698000-31709200	Weak transcription	Adipose Nuclei	Adipose
6	chr22:31698400-31709200	Weak transcription	Fetal Intestine Small	intestine
7	chr22:31702200-31709400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr22:31703000-31709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:31704200-31709200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:31704800-31709200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr22:31704800-31711400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:31704800-31711600	Weak transcription	Primary B cells from cord blood	blood
13	chr22:31704800-31720200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:31706200-31709200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:31706200-31721000	Weak transcription	HSMMtube	muscle
16	chr22:31708600-31709800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:31708800-31709800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:31708800-31709800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr22:31708800-31710000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr22:31708800-31711000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:31708800-31721400	Weak transcription	Ovary	ovary
22	chr22:31709000-31709200	Enhancers	Primary T cells from cord blood	blood
23	chr22:31709000-31709400	Weak transcription	HSMM	muscle
24	chr22:31709000-31709600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr22:31709000-31709600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:31709000-31709800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:31709000-31709800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr22:31709000-31709800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31709000-31709800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr22:31709000-31710000	Enhancers	Brain Angular Gyrus	brain
31	chr22:31709000-31710000	Enhancers	Placenta	Placenta

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