Variant report

Variant	rs2797407
Chromosome Location	chr1:114325181-114325182
allele	A/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114317877..114322132-chr1:114322334..114326038,5	K562	blood:
2	chr1:114299550..114305587-chr1:114319005..114326238,14	MCF-7	breast:
3	chr1:114323280..114325938-chr1:114345908..114348853,2	MCF-7	breast:
4	chr1:114324961..114329121-chr1:114330799..114335017,4	K562	blood:
5	chr1:114318613..114321495-chr1:114322094..114326471,4	MCF-7	breast:
6	chr1:114323968..114327770-chr1:114333801..114338657,5	MCF-7	breast:
7	chr1:114303634..114306529-chr1:114324305..114326913,3	K562	blood:
8	chr1:114323200..114325575-chr1:114326515..114328843,2	K562	blood:
9	chr1:114322818..114325422-chr1:114354034..114355879,2	K562	blood:
10	chr1:114324677..114327047-chr1:114352445..114354886,5	MCF-7	breast:
11	chr1:114320491..114326144-chr1:114352849..114356180,5	MCF-7	breast:
12	chr1:114315143..114317661-chr1:114324442..114326870,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217198	1.00[AMR][1000 genomes]
rs1217205	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1217209	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636009	1.00[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]
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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114302800-114326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:114302800-114326200	Weak transcription	Pancreas	Pancrea
3	chr1:114302800-114326200	Weak transcription	Right Ventricle	heart
4	chr1:114303000-114326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:114303200-114328400	Weak transcription	A549	lung
6	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:114308200-114326600	Weak transcription	Colonic Mucosa	Colon
8	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:114310600-114325400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:114310800-114326000	Weak transcription	HMEC	breast
11	chr1:114311000-114325800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:114311000-114326200	Weak transcription	HUVEC	blood vessel
13	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
15	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
16	chr1:114311200-114325800	Weak transcription	NHEK	skin
17	chr1:114312600-114328800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:114317800-114326200	Weak transcription	Ovary	ovary
19	chr1:114318000-114326200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:114319400-114325200	Weak transcription	Fetal Brain Female	brain
21	chr1:114319800-114325800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:114319800-114326400	Weak transcription	Hela-S3	cervix
23	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:114320000-114325800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:114320000-114326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:114320000-114326000	Weak transcription	Fetal Brain Male	brain
27	chr1:114320000-114326000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:114320000-114328200	Weak transcription	HepG2	liver
29	chr1:114320000-114336200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:114320200-114328800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:114320200-114337200	Weak transcription	Placenta	Placenta
34	chr1:114320400-114325400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:114320400-114326200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:114320400-114326200	Weak transcription	NH-A	brain
37	chr1:114320400-114330200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:114320400-114331600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:114320400-114337200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:114320600-114325800	Weak transcription	Fetal Stomach	stomach
41	chr1:114320600-114331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:114321200-114326400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:114321200-114326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:114322000-114326800	Enhancers	K562	blood
45	chr1:114322600-114325200	Enhancers	Primary B cells from cord blood	blood
46	chr1:114322600-114326200	Enhancers	Colon Smooth Muscle	Colon
47	chr1:114322800-114325400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:114323200-114327600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:114323200-114329200	Enhancers	Fetal Heart	heart
50	chr1:114323400-114327200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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