Variant report

Variant	rs2073861
Chromosome Location	chr22:31685256-31685257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr22:31684856-31685345	HL-60	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31675823..31681003-chr22:31682955..31686672,6	MCF-7	breast:
2	chr22:31659364..31661721-chr22:31683872..31686646,3	MCF-7	breast:
3	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
4	chr22:31679718..31681431-chr22:31684803..31686641,2	K562	blood:
5	chr22:31683610..31686152-chr22:31686912..31689729,2	MCF-7	breast:
6	chr22:31667817..31670473-chr22:31682402..31685348,3	K562	blood:
7	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
8	chr22:31642936..31645707-chr22:31684888..31688055,3	MCF-7	breast:
9	chr22:31684558..31686657-chr22:31740463..31743342,2	K562	blood:
10	chr10:101184624..101186124-chr22:31683739..31685259,2	K562	blood:
11	chr22:31682441..31684194-chr22:31684357..31686395,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228839	TF binding region
ENSG00000100100	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089493	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12168242	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12484282	0.81[ASN][1000 genomes]
rs12484775	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17820958	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2057951	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2073856	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074734	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2158779	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240424	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2267168	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28678535	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28872513	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2899161	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3747153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3747154	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3747155	1.00[EUR][1000 genomes]
rs3761430	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3788434	1.00[EUR][1000 genomes]
rs4293639	0.89[ASN][1000 genomes]
rs5749222	0.91[JPT][hapmap]
rs5749225	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5749230	0.91[ASN][1000 genomes]
rs5749233	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749235	0.91[ASN][1000 genomes]
rs5749236	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749239	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749240	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749241	0.95[ASN][1000 genomes]
rs5749247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749257	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5749258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749262	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753485	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs5753494	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753495	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5753502	0.85[ASN][1000 genomes]
rs5753506	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753509	0.83[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753511	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753512	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753513	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753516	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753519	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753523	0.90[ASN][1000 genomes]
rs5753525	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753526	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753527	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753529	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753532	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753534	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753535	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753540	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753554	0.89[ASN][1000 genomes]
rs5753555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753556	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753561	0.95[ASN][1000 genomes]
rs5753566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753569	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753571	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs57775002	0.97[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs58659480	0.81[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5994386	0.89[ASN][1000 genomes]
rs5997893	0.86[JPT][hapmap]
rs5997921	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs5997959	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs713619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7286926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7292620	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs8135417	0.91[JPT][hapmap]
rs874356	0.91[JPT][hapmap]
rs9619178	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621212	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9621215	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9621220	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9621226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9621236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]
rs9621270	1.00[EUR][1000 genomes]
rs9680708	0.83[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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
2	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
3	chr22:31669000-31685600	Weak transcription	Fetal Brain Male	brain
4	chr22:31669000-31686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31671800-31686200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:31672600-31685600	Strong transcription	Brain Germinal Matrix	brain
7	chr22:31673800-31685600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31674200-31685400	Strong transcription	Fetal Brain Female	brain
9	chr22:31674400-31686400	Weak transcription	Fetal Kidney	kidney
10	chr22:31674400-31686400	Weak transcription	NHDF-Ad	bronchial
11	chr22:31675400-31686400	Weak transcription	NH-A	brain
12	chr22:31678000-31686400	Weak transcription	HMEC	breast
13	chr22:31679000-31685400	Weak transcription	Liver	Liver
14	chr22:31679200-31685800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31679200-31686400	Weak transcription	HSMM	muscle
16	chr22:31679200-31686600	Weak transcription	Ovary	ovary
17	chr22:31679400-31685800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr22:31679400-31686400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr22:31680200-31685400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:31680400-31685400	Genic enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:31680400-31688400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31680600-31685600	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr22:31680600-31685800	Genic enhancers	Brain Angular Gyrus	brain
24	chr22:31680600-31687200	Transcr. at gene 5' and 3'	Thymus	Thymus
25	chr22:31680800-31685600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:31680800-31685800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:31681000-31686600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
28	chr22:31681200-31685600	Weak transcription	Fetal Muscle Leg	muscle
29	chr22:31681200-31686000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:31681200-31686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31681200-31686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31681200-31686400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:31682200-31685600	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:31682200-31685600	Strong transcription	HSMMtube	muscle
35	chr22:31682600-31685400	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr22:31682600-31685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31682600-31685600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:31682600-31687400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
39	chr22:31682800-31686000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
40	chr22:31683000-31685800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:31683000-31686200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr22:31683200-31686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:31683200-31688200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
44	chr22:31683400-31685800	Strong transcription	NHLF	lung
45	chr22:31683600-31685600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr22:31683600-31685800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:31683600-31686000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:31683600-31686000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr22:31683600-31686000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
50	chr22:31683600-31686000	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood

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