Variant report

Variant	rs72809827
Chromosome Location	chr2:97390953-97390954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2271893	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2314398	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4619651	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56351161	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56361249	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58361269	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6746896	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67570263	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72809820	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72809838	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599624	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97368400-97405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97370600-97398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97372400-97400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:97373200-97399000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:97373400-97395000	Weak transcription	Small Intestine	intestine
6	chr2:97375600-97398600	Weak transcription	Psoas Muscle	Psoas
7	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97376200-97393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:97377000-97393200	Weak transcription	HUVEC	blood vessel
10	chr2:97377000-97393200	Weak transcription	NH-A	brain
11	chr2:97377200-97393000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:97377200-97393000	Weak transcription	HSMMtube	muscle
13	chr2:97377200-97393200	Weak transcription	HMEC	breast
14	chr2:97377200-97393400	Weak transcription	Hela-S3	cervix
15	chr2:97377400-97393200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:97377400-97393200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:97377400-97393400	Weak transcription	HSMM	muscle
18	chr2:97377600-97393200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:97377600-97393200	Weak transcription	NHDF-Ad	bronchial
20	chr2:97377600-97396200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:97377600-97398000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:97377600-97398800	Weak transcription	K562	blood
23	chr2:97377600-97399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:97377800-97392000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:97377800-97392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:97377800-97392800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:97377800-97393000	Weak transcription	Gastric	stomach
28	chr2:97377800-97393200	Weak transcription	NHLF	lung
29	chr2:97377800-97396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:97377800-97396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:97377800-97398800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:97378000-97392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:97378000-97393200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:97378000-97393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:97378000-97395000	Weak transcription	NHEK	skin
36	chr2:97378000-97403600	Weak transcription	Stomach Mucosa	stomach
37	chr2:97378200-97393000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:97378400-97393200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:97378400-97395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:97378600-97392200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:97378600-97393000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:97378800-97392200	Weak transcription	Lung	lung
43	chr2:97378800-97393000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:97378800-97393200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:97378800-97393200	Weak transcription	Dnd41	blood
46	chr2:97378800-97396000	Weak transcription	GM12878-XiMat	blood
47	chr2:97379000-97391600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:97379000-97391600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:97379000-97393000	Weak transcription	Spleen	Spleen
50	chr2:97379000-97396000	Weak transcription	Rectal Smooth Muscle	rectum

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