Variant report

Variant	rs2240427
Chromosome Location	chr22:31738424-31738425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31738276-31738665	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31738110-31744074	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr22:31738416-31738438	MCF-7	breast:	n/a	n/a
5	REST	chr22:31738253-31739579	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr22:31738209-31744086	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:31737150..31739439-chr22:31822511..31824172,2	MCF-7	breast:
2	chr22:31697207..31699119-chr22:31737066..31739002,2	K562	blood:
3	chr22:31736345..31738425-chr22:31795224..31798140,2	K562	blood:
4	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
5	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
6	chr22:31700681..31703376-chr22:31737373..31738951,2	K562	blood:
7	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
8	chr22:31736945..31739713-chr22:32022907..32024552,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213888	TF binding region
ENSG00000212542	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11089493	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12165685	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12168242	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12484282	0.83[AFR][1000 genomes]
rs12484775	0.85[ASN][1000 genomes]
rs17220418	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17820958	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1859677	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2057951	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2073856	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs2073859	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2073860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2073861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2158779	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2240424	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2267168	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2283882	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28678535	0.87[ASN][1000 genomes]
rs28872513	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2899161	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs34930775	0.82[EUR][1000 genomes]
rs3747153	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3747154	0.91[ASN][1000 genomes]
rs4293639	0.92[ASN][1000 genomes]
rs5749222	0.91[JPT][hapmap]
rs5749225	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs5749230	0.85[ASN][1000 genomes]
rs5749233	0.85[ASN][1000 genomes]
rs5749235	0.85[ASN][1000 genomes]
rs5749236	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs5749239	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5749240	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5749241	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5749247	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5749252	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749255	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749257	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749258	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5749262	0.88[ASN][1000 genomes]
rs5749263	0.85[ASN][1000 genomes]
rs5753485	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs5753494	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs5753495	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5753506	0.85[ASN][1000 genomes]
rs5753509	0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs5753511	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5753512	0.85[ASN][1000 genomes]
rs5753513	0.85[ASN][1000 genomes]
rs5753516	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5753519	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753523	0.85[ASN][1000 genomes]
rs5753525	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753526	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753527	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753529	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753532	0.91[ASN][1000 genomes]
rs5753534	0.92[ASN][1000 genomes]
rs5753535	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5753540	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753542	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753554	0.93[ASN][1000 genomes]
rs5753555	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753556	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753561	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753569	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5753571	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58659480	0.87[ASN][1000 genomes]
rs5994386	0.92[ASN][1000 genomes]
rs5997893	0.86[JPT][hapmap]
rs5997921	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5997959	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs713619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7286926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7292620	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs8135417	0.91[JPT][hapmap]
rs874356	0.91[JPT][hapmap]
rs9619178	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9621212	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9621215	0.85[ASN][1000 genomes]
rs9621220	0.83[ASN][1000 genomes]
rs9621226	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9621236	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9680708	0.87[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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:31721600-31739400	Weak transcription	Psoas Muscle	Psoas
4	chr22:31729000-31739000	Weak transcription	Hela-S3	cervix
5	chr22:31731200-31738800	Weak transcription	Right Atrium	heart
6	chr22:31731200-31739000	Weak transcription	Small Intestine	intestine
7	chr22:31731200-31739600	Weak transcription	K562	blood
8	chr22:31731600-31738800	Weak transcription	HSMMtube	muscle
9	chr22:31733000-31739000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:31733000-31739000	Strong transcription	A549	lung
11	chr22:31733200-31738800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:31733200-31739000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr22:31733200-31739000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:31733200-31739000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr22:31733200-31739400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr22:31733400-31738800	Weak transcription	NH-A	brain
17	chr22:31733400-31739000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr22:31733600-31738800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:31733800-31739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:31733800-31739200	Weak transcription	HMEC	breast
21	chr22:31734400-31738800	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr22:31734400-31738800	Genic enhancers	Brain Hippocampus Middle	brain
23	chr22:31734400-31739200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:31734800-31738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:31735000-31739000	Genic enhancers	Brain Substantia Nigra	brain
26	chr22:31735000-31739000	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr22:31735000-31739200	Genic enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:31735400-31738600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:31735400-31738600	Strong transcription	Aorta	Aorta
30	chr22:31735400-31739000	Genic enhancers	Liver	Liver
31	chr22:31735400-31739200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr22:31735600-31739000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr22:31735600-31739000	Strong transcription	NHLF	lung
34	chr22:31735800-31738600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr22:31735800-31738600	Enhancers	Fetal Brain Male	brain
36	chr22:31735800-31739000	Transcr. at gene 5' and 3'	HepG2	liver
37	chr22:31735800-31739400	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr22:31735800-31739600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr22:31735800-31740000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:31735800-31741200	Genic enhancers	Spleen	Spleen
41	chr22:31736000-31738800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:31736000-31738800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:31736000-31739000	Genic enhancers	Lung	lung
44	chr22:31736200-31738600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:31736200-31738800	Strong transcription	Left Ventricle	heart
46	chr22:31736600-31739200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr22:31736600-31739400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr22:31736800-31738600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:31736800-31738600	Genic enhancers	Fetal Thymus	thymus
50	chr22:31736800-31738600	Strong transcription	Ovary	ovary

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