Variant report

Variant	rs2636000
Chromosome Location	chr1:114318022-114318023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114317877..114322132-chr1:114322334..114326038,5	K562	blood:
2	chr1:114301792..114303371-chr1:114318002..114320468,2	K562	blood:
3	chr1:114317443..114319030-chr1:114354000..114355805,2	MCF-7	breast:
4	chr1:114317996..114324872-chr1:114329159..114335059,8	K562	blood:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10858015	0.85[ASN][1000 genomes]
rs11102678	0.95[ASN][1000 genomes]
rs1217375	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217403	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217408	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217417	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1230681	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1230684	0.95[ASN][1000 genomes]
rs1746857	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935836	0.95[ASN][1000 genomes]
rs1970559	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2040041	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185827	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2476599	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2476602	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3789597	0.89[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114302600-114321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:114302800-114323200	Weak transcription	Aorta	Aorta
3	chr1:114302800-114323600	Weak transcription	Psoas Muscle	Psoas
4	chr1:114302800-114326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:114302800-114326200	Weak transcription	Pancreas	Pancrea
6	chr1:114302800-114326200	Weak transcription	Right Ventricle	heart
7	chr1:114303000-114318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:114303000-114319000	Weak transcription	Fetal Brain Male	brain
9	chr1:114303000-114319000	Weak transcription	HSMMtube	muscle
10	chr1:114303000-114323200	Weak transcription	Fetal Heart	heart
11	chr1:114303000-114326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:114303200-114328400	Weak transcription	A549	lung
13	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:114304800-114320600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:114308200-114326600	Weak transcription	Colonic Mucosa	Colon
16	chr1:114309000-114323600	Weak transcription	Gastric	stomach
17	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:114310200-114319000	Weak transcription	Left Ventricle	heart
19	chr1:114310600-114325400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:114310800-114318600	Weak transcription	HSMM	muscle
21	chr1:114310800-114319400	Weak transcription	NH-A	brain
22	chr1:114310800-114326000	Weak transcription	HMEC	breast
23	chr1:114311000-114318400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:114311000-114318600	Weak transcription	Hela-S3	cervix
25	chr1:114311000-114319000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:114311000-114319000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:114311000-114319200	Weak transcription	Osteobl	bone
28	chr1:114311000-114323600	Weak transcription	Lung	lung
29	chr1:114311000-114324800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:114311000-114325800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:114311000-114326200	Weak transcription	HUVEC	blood vessel
32	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
34	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
35	chr1:114311200-114319000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:114311200-114325800	Weak transcription	NHEK	skin
37	chr1:114311400-114318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:114311400-114318400	Weak transcription	HepG2	liver
39	chr1:114311400-114318600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:114312000-114318400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:114312400-114321200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:114312400-114321200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:114312600-114318400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:114312600-114318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:114312600-114318800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:114312600-114322600	Weak transcription	Brain Substantia Nigra	brain
47	chr1:114312600-114323600	Weak transcription	Right Atrium	heart
48	chr1:114312600-114323600	Weak transcription	Small Intestine	intestine
49	chr1:114312600-114328800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:114312800-114318600	Weak transcription	Brain Hippocampus Middle	brain

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