Variant report

Variant	rs10502390
Chromosome Location	chr18:9113230-9113231
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr18:9113126-9113254	GM12878	blood:	n/a	n/a
2	POLR2A	chr18:9113083-9113369	K562	blood:	n/a	n/a
3	POLR2A	chr18:9112901-9113373	HepG2	liver:	n/a	n/a
4	POLR2A	chr18:9113147-9113344	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
2	chr18:9109653..9114484-chr18:9134215..9138699,5	K562	blood:
3	chr18:9090749..9092578-chr18:9112344..9115016,2	MCF-7	breast:
4	chr18:9112428..9114978-chr18:9116573..9118985,2	MCF-7	breast:
5	chr18:9109653..9113477-chr18:9134878..9138733,4	K562	blood:

No data

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000178127	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1034486	1.00[YRI][hapmap]
rs1046491	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs10853373	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11081459	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11081463	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11081469	1.00[YRI][hapmap]
rs11660889	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11661901	1.00[YRI][hapmap]
rs11661921	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs11663175	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11663949	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11872176	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs11872481	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11875086	0.84[AMR][1000 genomes]
rs11876775	0.84[AMR][1000 genomes]
rs11876821	1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11877843	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12454025	0.87[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12454497	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs12454908	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12454936	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12455304	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs12457266	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12457429	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12966444	0.89[CEU][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12966775	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12968060	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35002591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35587943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35774167	0.87[AMR][1000 genomes]
rs35849084	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41274300	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6506641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6506647	1.00[YRI][hapmap]
rs7226632	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs7229685	0.89[CEU][hapmap];0.88[YRI][hapmap]
rs8085549	1.00[CEU][hapmap]
rs8085669	0.81[AMR][1000 genomes]
rs8086362	1.00[YRI][hapmap]
rs8089577	1.00[YRI][hapmap]
rs8090297	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8095601	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9103400-9113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:9103400-9113400	Weak transcription	Spleen	Spleen
3	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
5	chr18:9104400-9117000	Weak transcription	Lung	lung
6	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9106200-9116800	Weak transcription	Placenta	Placenta
8	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
9	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:9107000-9113400	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:9107400-9116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:9107600-9116400	Weak transcription	HMEC	breast
15	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
16	chr18:9107800-9114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr18:9107800-9116800	Enhancers	Primary B cells from peripheral blood	blood
18	chr18:9107800-9116800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
20	chr18:9108000-9113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:9108000-9114800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr18:9108000-9116600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr18:9108000-9117400	Weak transcription	Fetal Kidney	kidney
24	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
26	chr18:9108600-9114000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:9109200-9113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr18:9109200-9116800	Weak transcription	Gastric	stomach
29	chr18:9109600-9117000	Weak transcription	Brain Germinal Matrix	brain
30	chr18:9109600-9117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr18:9109800-9115000	Weak transcription	HUVEC	blood vessel
33	chr18:9110000-9113400	Weak transcription	NHEK	skin
34	chr18:9110000-9116600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr18:9110200-9113400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr18:9110200-9116000	Weak transcription	NH-A	brain
37	chr18:9110200-9117400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:9110400-9115400	Weak transcription	Osteobl	bone
39	chr18:9110600-9113400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:9110600-9113400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr18:9110600-9116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:9110600-9118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:9110800-9116800	Weak transcription	Aorta	Aorta
44	chr18:9111200-9113400	Weak transcription	Small Intestine	intestine
45	chr18:9111200-9113800	Enhancers	Primary B cells from cord blood	blood
46	chr18:9111200-9113800	Weak transcription	Right Ventricle	heart
47	chr18:9111200-9115800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:9111200-9115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:9111200-9117400	Weak transcription	Fetal Intestine Large	intestine
50	chr18:9111200-9117600	Weak transcription	Fetal Lung	lung

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