Variant report

Variant	rs72638197
Chromosome Location	chr11:35325004-35325005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35324688-35326297	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:35324183-35326953	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:35324131..35326995-chr11:35344530..35347090,2	MCF-7	breast:
2	chr11:35323422..35325913-chr11:35358470..35360620,2	MCF-7	breast:
3	chr11:35316164..35320832-chr11:35323901..35327904,6	MCF-7	breast:
4	chr11:35294659..35299259-chr11:35323739..35329418,10	MCF-7	breast:
5	chr11:35323596..35326224-chr11:35411777..35414366,2	MCF-7	breast:
6	chr11:35316339..35320306-chr11:35324557..35327417,4	MCF-7	breast:

No data

Variant related genes	Relation type
SLC1A2	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1042113	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444271	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10488816	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10488817	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10488818	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836366	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836368	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033050	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11033053	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033054	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033055	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033056	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033057	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033058	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033060	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033064	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12146523	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12418812	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576364	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12576375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927292	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236272	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3794087	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3794088	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3794093	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3794094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3794097	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891872	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3895234	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41352148	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41525047	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756207	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56043665	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56140126	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56402269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880962	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61882290	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61882291	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61882292	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61882293	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111043	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111055	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111179	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7129693	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72638196	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs752949	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7927975	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940391	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35298200-35326000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:35299000-35326600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:35299800-35328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:35302400-35327000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:35302600-35329000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:35304600-35326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:35308600-35325800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:35308600-35326400	Weak transcription	Brain Anterior Caudate	brain
9	chr11:35310000-35325800	Weak transcription	Brain Germinal Matrix	brain
10	chr11:35314200-35329200	Weak transcription	Fetal Brain Male	brain
11	chr11:35314800-35327000	Weak transcription	Fetal Stomach	stomach
12	chr11:35317600-35326800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:35317600-35327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:35318800-35325400	Weak transcription	Fetal Brain Female	brain
15	chr11:35320400-35325600	Weak transcription	Placenta	Placenta
16	chr11:35322000-35327000	Weak transcription	Aorta	Aorta
17	chr11:35322600-35327400	Enhancers	Adipose Nuclei	Adipose
18	chr11:35322800-35326600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:35323200-35325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:35323200-35325800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:35323200-35325800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:35323600-35325600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:35324000-35325400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:35324000-35326800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:35324000-35327000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:35324000-35327600	Enhancers	NHDF-Ad	bronchial
27	chr11:35324000-35327800	Enhancers	NHLF	lung
28	chr11:35324000-35336200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:35324200-35327600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:35324200-35327600	Enhancers	Osteobl	bone
31	chr11:35324400-35325400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:35324400-35326200	Enhancers	Stomach Mucosa	stomach
33	chr11:35324400-35327200	Weak transcription	Esophagus	oesophagus
34	chr11:35324400-35327200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:35324400-35343200	Weak transcription	Gastric	stomach
36	chr11:35324600-35325600	Weak transcription	Pancreas	Pancrea
37	chr11:35324600-35327200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:35324800-35325200	Enhancers	Liver	Liver
39	chr11:35324800-35325600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:35324800-35325800	Enhancers	Hela-S3	cervix
41	chr11:35324800-35327600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:35325000-35325200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:35325000-35325200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:35325000-35325800	Enhancers	HepG2	liver
45	chr11:35325000-35326800	Weak transcription	Small Intestine	intestine
46	chr11:35325000-35326800	Enhancers	GM12878-XiMat	blood

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