Variant report

Variant	rs73027301
Chromosome Location	chr2:171941031-171941032
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171940581..171942917-chr2:171943648..171945919,3	K562	blood:
2	chr2:171936825..171939647-chr2:171940900..171943527,3	K562	blood:
3	chr2:171940038..171942334-chr2:172013926..172015979,2	K562	blood:
4	chr2:171939977..171942208-chr2:172016045..172018385,2	K562	blood:
5	chr2:171830122..171831623-chr2:171940240..171942283,2	MCF-7	breast:
6	chr2:171939365..171942427-chr2:171942880..171945148,3	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10168109	1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	1.00[EUR][1000 genomes]
rs10204442	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[EUR][1000 genomes]
rs12621215	1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[EUR][1000 genomes]
rs6722314	1.00[EUR][1000 genomes]
rs6732108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584937	1.00[EUR][1000 genomes]
rs964171	1.00[EUR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
2	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
3	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
4	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
5	chr2:171907800-171942800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:171911600-171943200	Weak transcription	NH-A	brain
7	chr2:171916600-171944600	Weak transcription	Lung	lung
8	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:171916600-171970800	Weak transcription	Ovary	ovary
10	chr2:171916800-171942200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:171916800-171943200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:171917000-171942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:171917000-171942800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:171917000-171942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:171917000-171942800	Weak transcription	Gastric	stomach
16	chr2:171917000-171942800	Weak transcription	Left Ventricle	heart
17	chr2:171917000-171943000	Weak transcription	Osteobl	bone
18	chr2:171917000-171943200	Weak transcription	Fetal Lung	lung
19	chr2:171917000-171946200	Weak transcription	Psoas Muscle	Psoas
20	chr2:171917000-171948000	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:171917000-171953200	Weak transcription	HSMM	muscle
22	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:171917400-171943200	Weak transcription	NHDF-Ad	bronchial
25	chr2:171917600-171942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:171926400-171943200	Weak transcription	A549	lung
27	chr2:171928600-171942800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:171928600-171943200	Weak transcription	Fetal Kidney	kidney
29	chr2:171929200-171944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:171931200-171950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:171933000-171942800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:171933200-171954000	Weak transcription	Fetal Stomach	stomach
34	chr2:171933200-171954200	Weak transcription	Esophagus	oesophagus
35	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:171933800-171953200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:171934000-171955800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:171934800-171945800	Weak transcription	HMEC	breast
39	chr2:171936600-171942800	Weak transcription	Fetal Thymus	thymus
40	chr2:171936600-171943200	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:171937200-171942800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:171937200-171942800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:171937400-171943200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:171937400-171951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:171937600-171947400	Weak transcription	Fetal Intestine Large	intestine
46	chr2:171937600-171948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:171937600-171953600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:171937800-171945800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:171938200-171944800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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