Variant report

Variant	rs12418812
Chromosome Location	chr11:35326805-35326806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35325489-35327231	PFSK-1	brain:	n/a	n/a
2	MYC	chr11:35325311-35326973	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr11:35326745-35326895	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:35324183-35326953	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr11:35326435-35327016	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:35326631-35326962	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr11:35326464-35326895	PFSK-1	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35324131..35326995-chr11:35344530..35347090,2	MCF-7	breast:
2	chr11:35316164..35320832-chr11:35323901..35327904,6	MCF-7	breast:
3	chr11:35294659..35299259-chr11:35323739..35329418,10	MCF-7	breast:
4	chr11:34947799..34948300-chr11:35326589..35327576,2	K562	blood:
5	chr11:35325082..35329028-chr11:35338650..35340551,3	MCF-7	breast:
6	chr11:35325349..35327206-chr11:35381816..35384283,2	MCF-7	breast:
7	chr11:35325412..35330750-chr11:35411649..35414159,5	MCF-7	breast:
8	chr11:35316339..35320306-chr11:35324557..35327417,4	MCF-7	breast:
9	chr11:35325471..35328883-chr11:35329361..35332564,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC1A2	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1042113	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10444271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488816	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10488817	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10488818	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836366	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836368	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033050	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033053	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11033054	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033055	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033056	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033058	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033063	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11033064	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11033071	0.81[AMR][1000 genomes]
rs12146523	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576364	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576375	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236272	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273687	0.81[AMR][1000 genomes]
rs3794087	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794088	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794093	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3794094	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3794097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829266	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847612	0.81[AMR][1000 genomes]
rs3847613	0.81[AMR][1000 genomes]
rs3891872	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3895234	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4083481	0.81[AMR][1000 genomes]
rs41352148	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41525047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756207	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756210	0.81[AMR][1000 genomes]
rs55709010	0.81[AMR][1000 genomes]
rs55834429	0.81[AMR][1000 genomes]
rs56043665	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56140126	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56402269	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61880962	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61882290	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882291	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882292	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882293	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7111043	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7111055	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7111179	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7129693	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72638196	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72638197	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs752949	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927975	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940391	0.92[AMR][1000 genomes];0.91[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35299800-35328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:35302400-35327000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:35302600-35329000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:35314200-35329200	Weak transcription	Fetal Brain Male	brain
5	chr11:35314800-35327000	Weak transcription	Fetal Stomach	stomach
6	chr11:35317600-35327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:35322000-35327000	Weak transcription	Aorta	Aorta
8	chr11:35322600-35327400	Enhancers	Adipose Nuclei	Adipose
9	chr11:35324000-35327000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:35324000-35327600	Enhancers	NHDF-Ad	bronchial
11	chr11:35324000-35327800	Enhancers	NHLF	lung
12	chr11:35324000-35336200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:35324200-35327600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:35324200-35327600	Enhancers	Osteobl	bone
15	chr11:35324400-35327200	Weak transcription	Esophagus	oesophagus
16	chr11:35324400-35327200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:35324400-35343200	Weak transcription	Gastric	stomach
18	chr11:35324600-35327200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:35324800-35327600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:35325200-35327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:35325200-35327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:35325200-35328600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:35325200-35339000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:35325400-35327400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:35325400-35327400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:35325400-35327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:35325400-35327800	Strong transcription	Fetal Brain Female	brain
28	chr11:35325600-35327200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:35325600-35327200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:35325600-35327400	Enhancers	Pancreas	Pancrea
31	chr11:35325600-35327800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:35325600-35327800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:35325600-35327800	Enhancers	Placenta	Placenta
34	chr11:35325600-35327800	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:35325600-35339200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:35325800-35327000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr11:35325800-35327000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:35325800-35327200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:35325800-35327400	Enhancers	Colon Smooth Muscle	Colon
40	chr11:35325800-35327400	Enhancers	NH-A	brain
41	chr11:35325800-35327600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:35325800-35327800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:35325800-35327800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:35325800-35327800	Strong transcription	Brain Germinal Matrix	brain
45	chr11:35325800-35327800	Enhancers	Spleen	Spleen
46	chr11:35325800-35327800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:35326000-35327200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:35326000-35327200	Enhancers	Brain Substantia Nigra	brain
49	chr11:35326000-35327400	Enhancers	Primary T cells from cord blood	blood
50	chr11:35326000-35327600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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