Variant report

Variant	rs72980376
Chromosome Location	chr2:234373368-234373369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234372522..234374797-chr2:234385082..234387543,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10929178	0.82[AMR][1000 genomes]
rs11675254	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11681704	0.85[EUR][1000 genomes]
rs2228939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768799	0.96[EUR][1000 genomes]
rs3768801	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768802	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796092	0.86[AMR][1000 genomes]
rs3820744	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56266844	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56277462	0.93[EUR][1000 genomes]
rs56336977	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6750618	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753242	0.85[EUR][1000 genomes]
rs72980338	0.87[EUR][1000 genomes]
rs72980361	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72980392	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587876	0.85[EUR][1000 genomes]
rs7597465	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
13	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
14	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
27	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:234353600-234373800	Strong transcription	Dnd41	blood
30	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
32	chr2:234354000-234373800	Strong transcription	Fetal Brain Female	brain
33	chr2:234354000-234377800	Weak transcription	Fetal Heart	heart
34	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:234354200-234373400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:234355000-234377800	Strong transcription	Adipose Nuclei	Adipose
37	chr2:234356400-234374200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:234357600-234382000	Strong transcription	Liver	Liver
39	chr2:234358000-234374200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:234358200-234378400	Strong transcription	Fetal Intestine Small	intestine
41	chr2:234358200-234379000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:234358200-234379400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:234359400-234373800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:234360600-234373800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
46	chr2:234361400-234378200	Weak transcription	K562	blood
47	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
48	chr2:234362600-234379600	Strong transcription	HSMMtube	muscle
49	chr2:234363000-234378000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:234363200-234373800	Strong transcription	Colon Smooth Muscle	Colon

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