Variant report

Variant	rs2636009
Chromosome Location	chr1:114300275-114300276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114300040..114303354-chr1:114351974..114356702,9	MCF-7	breast:
2	chr1:114299428..114302166-chr1:114446012..114448303,2	K562	blood:
3	chr1:114298167..114305255-chr1:114351008..114356451,27	MCF-7	breast:
4	chr1:114299507..114303267-chr1:114354438..114356409,4	K562	blood:
5	chr1:113160444..113162018-chr1:114299842..114302657,2	K562	blood:
6	chr1:114300189..114305139-chr20:48598182..48603040,8	MCF-7	breast:
7	chr1:114300069..114302951-chr1:114469985..114474355,4	MCF-7	breast:
8	chr1:114299235..114302663-chr1:114470274..114473459,3	K562	blood:
9	chr1:114299035..114300595-chr1:114352639..114355622,2	K562	blood:
10	chr1:114300200..114301915-chr1:114470901..114473894,2	MCF-7	breast:
11	chr1:114289765..114292253-chr1:114298221..114300505,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134262	Chromatin interaction
ENSG00000124216	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000118655	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1146181	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217198	1.00[AMR][1000 genomes]
rs1217205	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217209	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1230664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032019	1.00[AMR][1000 genomes]
rs2635996	0.85[AFR][1000 genomes]
rs2636006	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2757510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2757514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2797406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2797407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2797413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2798136	0.92[AFR][1000 genomes];1.00[AMR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:114261400-114301000	Weak transcription	Lung	lung
4	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
5	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
6	chr1:114261600-114300600	Weak transcription	Gastric	stomach
7	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
8	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:114280400-114301400	Weak transcription	Spleen	Spleen
10	chr1:114290600-114300400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:114293200-114300600	Weak transcription	Placenta	Placenta
12	chr1:114293400-114300600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:114297000-114300400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:114297000-114300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:114297000-114300600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:114297000-114300600	Weak transcription	Left Ventricle	heart
17	chr1:114297000-114300600	Weak transcription	Ovary	ovary
18	chr1:114297000-114300600	Weak transcription	Pancreas	Pancrea
19	chr1:114297600-114300600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:114298600-114300400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:114298600-114300600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:114298800-114300400	Enhancers	Liver	Liver
23	chr1:114299200-114300400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:114299200-114300400	Weak transcription	Primary T cells from cord blood	blood
25	chr1:114299400-114300600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:114299400-114300600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:114299600-114300400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr1:114299800-114300400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:114299800-114300400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:114299800-114300400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:114299800-114300400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:114299800-114300400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:114299800-114300400	Enhancers	Fetal Stomach	stomach
34	chr1:114299800-114300400	Flanking Active TSS	Hela-S3	cervix
35	chr1:114299800-114300400	Flanking Active TSS	K562	blood
36	chr1:114299800-114300600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:114299800-114300600	Flanking Active TSS	Dnd41	blood
38	chr1:114299800-114300600	Flanking Active TSS	HUVEC	blood vessel
39	chr1:114299800-114300600	Flanking Active TSS	Osteobl	bone
40	chr1:114299800-114301400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:114300000-114300400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:114300000-114300400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
43	chr1:114300000-114300400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:114300000-114300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:114300000-114300400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:114300000-114300400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:114300000-114300400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:114300000-114300400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:114300000-114300400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:114300000-114300400	Enhancers	Duodenum Mucosa	Duodenum

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