Variant report

Variant	rs73976125
Chromosome Location	chr2:172009420-172009421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172009192..172011548-chr2:172270786..172273321,2	K562	blood:
2	chr2:172004062..172006526-chr2:172009353..172011792,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10173931	0.80[EUR][1000 genomes]
rs13389859	0.88[EUR][1000 genomes]
rs16859087	0.80[EUR][1000 genomes]
rs16859121	0.80[EUR][1000 genomes]
rs16859167	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16859176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16859177	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356600	0.86[EUR][1000 genomes]
rs2356609	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2723245	0.80[EUR][1000 genomes]
rs2723248	0.80[EUR][1000 genomes]
rs55644524	0.86[EUR][1000 genomes]
rs55885449	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55939429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55991728	0.82[EUR][1000 genomes]
rs55995602	0.86[EUR][1000 genomes]
rs55997598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56004444	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56134465	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56155163	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56155601	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56243805	0.82[EUR][1000 genomes]
rs56267332	0.84[EUR][1000 genomes]
rs56308745	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56382502	0.88[EUR][1000 genomes]
rs56934523	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57733560	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58685348	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59841744	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60396936	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60730419	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61105084	0.92[EUR][1000 genomes]
rs6711423	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722196	0.80[EUR][1000 genomes]
rs6736045	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6746133	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73013435	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013436	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013439	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013453	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013465	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73017249	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73017262	0.92[EUR][1000 genomes]
rs73017268	0.92[EUR][1000 genomes]
rs73017286	0.86[EUR][1000 genomes]
rs73027220	0.80[EUR][1000 genomes]
rs73029214	0.88[EUR][1000 genomes]
rs73976285	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7580756	0.88[EUR][1000 genomes]
rs7591214	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9752051	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171957200-172010400	Weak transcription	HSMM	muscle
2	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:171994000-172010400	Weak transcription	Thymus	Thymus
6	chr2:171994200-172010400	Weak transcription	Ovary	ovary
7	chr2:171995400-172012200	Weak transcription	Dnd41	blood
8	chr2:171996600-172015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:171996600-172015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:171996600-172015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:171997000-172010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:171998200-172010400	Weak transcription	Psoas Muscle	Psoas
13	chr2:171998400-172014800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:171999000-172014800	Weak transcription	Osteobl	bone
15	chr2:171999200-172014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:171999600-172012200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:171999600-172013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:172000000-172010400	Weak transcription	Spleen	Spleen
19	chr2:172000200-172014600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:172001000-172010800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:172001600-172010400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:172003000-172012200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172003200-172015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:172003400-172010400	Weak transcription	Fetal Thymus	thymus
25	chr2:172003400-172012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:172003600-172010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:172003600-172014600	Weak transcription	HMEC	breast
28	chr2:172003800-172010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:172003800-172012400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:172003800-172014600	Weak transcription	NH-A	brain
31	chr2:172004000-172010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:172004000-172012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:172004200-172009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:172004200-172010800	Weak transcription	NHEK	skin
35	chr2:172004200-172015400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:172004800-172010000	Weak transcription	Primary B cells from cord blood	blood
37	chr2:172004800-172010000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:172004800-172010400	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:172005000-172009800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:172005000-172010000	Weak transcription	K562	blood
41	chr2:172005200-172010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:172005200-172011000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:172005200-172012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:172005200-172012200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:172005400-172010400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:172005800-172009800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:172006000-172014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:172007400-172010400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:172007400-172010600	Weak transcription	Stomach Mucosa	stomach
50	chr2:172007600-172009800	Weak transcription	A549	lung

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