Variant report

Variant	rs6746133
Chromosome Location	chr2:171937689-171937690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171936876..171939650-chr2:172016098..172018124,2	K562	blood:
2	chr2:171935229..171937932-chr2:172015681..172018523,3	MCF-7	breast:
3	chr2:171933890..171935925-chr2:171936259..171938371,2	MCF-7	breast:
4	chr2:171916445..171918563-chr2:171936287..171937836,2	K562	blood:
5	chr2:171928709..171930316-chr2:171935915..171938199,2	K562	blood:
6	chr2:171936657..171938320-chr2:171948737..171950412,2	MCF-7	breast:
7	chr2:171936825..171939647-chr2:171940900..171943527,3	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10173931	0.96[EUR][1000 genomes]
rs10490606	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13389859	0.96[EUR][1000 genomes]
rs16823191	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs16859087	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16859121	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16859137	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16859167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16859176	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16859177	0.84[EUR][1000 genomes]
rs1863679	0.81[AFR][1000 genomes]
rs2356600	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2356609	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2723245	0.96[EUR][1000 genomes]
rs2723248	0.96[EUR][1000 genomes]
rs2723250	0.94[EUR][1000 genomes]
rs2883940	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55644524	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55885449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939429	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55995602	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55997598	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56004444	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56134465	0.82[EUR][1000 genomes]
rs56155163	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56155601	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56191582	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56308745	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56382502	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56934523	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57173242	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57733560	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58028937	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58307585	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs58685348	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59841744	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60396936	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60730419	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61105084	0.81[AMR][1000 genomes]
rs6711423	0.84[EUR][1000 genomes]
rs6722196	0.96[EUR][1000 genomes]
rs6736045	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6750585	0.94[EUR][1000 genomes]
rs73013435	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73013436	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73013439	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73013453	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73013465	0.84[EUR][1000 genomes]
rs73017249	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73017262	0.80[AMR][1000 genomes]
rs73017268	0.81[AMR][1000 genomes]
rs73027220	0.96[EUR][1000 genomes]
rs73027271	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73029214	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73976125	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73976285	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7591214	0.96[EUR][1000 genomes]
rs7604392	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9752051	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
2	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
3	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
4	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
5	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
6	chr2:171900000-171940000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:171900200-171937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
9	chr2:171903000-171940000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:171905800-171939200	Weak transcription	HSMMtube	muscle
11	chr2:171907800-171942800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:171911600-171943200	Weak transcription	NH-A	brain
13	chr2:171916600-171940000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:171916600-171944600	Weak transcription	Lung	lung
15	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:171916600-171970800	Weak transcription	Ovary	ovary
17	chr2:171916800-171942200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:171916800-171943200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:171917000-171940400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:171917000-171942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:171917000-171942800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:171917000-171942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:171917000-171942800	Weak transcription	Gastric	stomach
24	chr2:171917000-171942800	Weak transcription	Left Ventricle	heart
25	chr2:171917000-171943000	Weak transcription	Osteobl	bone
26	chr2:171917000-171943200	Weak transcription	Fetal Lung	lung
27	chr2:171917000-171946200	Weak transcription	Psoas Muscle	Psoas
28	chr2:171917000-171948000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:171917000-171953200	Weak transcription	HSMM	muscle
30	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:171917400-171943200	Weak transcription	NHDF-Ad	bronchial
33	chr2:171917600-171942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:171917800-171938200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:171918400-171940600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:171921200-171938400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:171921400-171937800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:171924000-171940400	Weak transcription	Fetal Brain Male	brain
39	chr2:171924800-171939800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:171925800-171939000	Strong transcription	GM12878-XiMat	blood
41	chr2:171926400-171938400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:171926400-171943200	Weak transcription	A549	lung
43	chr2:171927200-171938400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:171928200-171939200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:171928600-171942800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:171928600-171943200	Weak transcription	Fetal Kidney	kidney
47	chr2:171929000-171938600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:171929200-171938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:171929200-171944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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