Variant report

Variant	rs7231281
Chromosome Location	chr18:9500986-9500987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9499825..9502780-chr18:9504704..9506933,2	K562	blood:
2	chr18:9494936..9496887-chr18:9498757..9501330,3	K562	blood:

Variant related genes	Relation type
ENSG00000266805	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11876700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958901	0.88[EUR][1000 genomes]
rs12962895	0.86[ASN][1000 genomes]
rs12965004	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966136	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12970100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955222	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955240	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955247	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34361892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34863209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870926	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34979461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35062594	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189459	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35833761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36064377	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57539532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71362083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7228633	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232664	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs7236410	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8085681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8099656	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9477000-9514000	Weak transcription	NH-A	brain
2	chr18:9477200-9513800	Weak transcription	HSMM	muscle
3	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
4	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
8	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
10	chr18:9479000-9533600	Weak transcription	Gastric	stomach
11	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:9492400-9501400	Weak transcription	Fetal Thymus	thymus
14	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:9492800-9503400	Weak transcription	A549	lung
16	chr18:9493800-9506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:9494200-9501800	Weak transcription	Fetal Lung	lung
18	chr18:9494800-9501400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:9494800-9501600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:9495000-9501400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr18:9495000-9502600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr18:9495000-9503000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr18:9495000-9506000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:9495000-9507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:9495000-9518000	Weak transcription	Liver	Liver
26	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:9495200-9501600	Weak transcription	Lung	lung
28	chr18:9495200-9504600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:9495200-9506200	Weak transcription	Left Ventricle	heart
30	chr18:9495200-9506200	Weak transcription	Psoas Muscle	Psoas
31	chr18:9495200-9508200	Weak transcription	Ovary	ovary
32	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
34	chr18:9495400-9501600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:9495400-9501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9495400-9512800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:9495400-9514000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
39	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr18:9495600-9501600	Weak transcription	Thymus	Thymus
41	chr18:9495800-9503000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:9495800-9514000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:9495800-9517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:9496000-9513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr18:9496200-9501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:9496200-9507200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:9496600-9503000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:9496600-9505000	Weak transcription	Stomach Mucosa	stomach
49	chr18:9496800-9501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:9496800-9506000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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