Variant report

Variant	rs13245699
Chromosome Location	chr7:129012547-129012548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128955714..128958015-chr7:129010766..129013650,2	K562	blood:
2	chr7:129006160..129011107-chr7:129012135..129016700,5	K562	blood:
3	chr7:129006214..129010069-chr7:129010639..129014784,4	K562	blood:
4	chr7:129010170..129013267-chr7:129023514..129025912,3	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10249336	0.80[EUR][1000 genomes]
rs10255583	0.80[EUR][1000 genomes]
rs11766298	0.83[AMR][1000 genomes]
rs12706872	0.87[EUR][1000 genomes]
rs12706873	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12706874	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12706876	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706877	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706878	0.96[EUR][1000 genomes]
rs12706879	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706880	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706881	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12706882	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706883	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13221770	0.87[EUR][1000 genomes]
rs13224964	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13225516	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13226919	0.87[EUR][1000 genomes]
rs13230585	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13235721	0.83[AMR][1000 genomes]
rs13240872	0.87[EUR][1000 genomes]
rs13246455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718099	0.80[EUR][1000 genomes]
rs34026893	0.87[EUR][1000 genomes]
rs34071868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34285950	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34534484	0.87[EUR][1000 genomes]
rs34651338	0.87[EUR][1000 genomes]
rs34691806	0.87[EUR][1000 genomes]
rs34698607	0.80[EUR][1000 genomes]
rs34721141	0.87[EUR][1000 genomes]
rs34783919	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34822917	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34867290	0.87[EUR][1000 genomes]
rs34890000	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35060087	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35064108	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35120382	0.87[EUR][1000 genomes]
rs35195965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35381790	0.87[EUR][1000 genomes]
rs35386880	0.87[EUR][1000 genomes]
rs35506900	0.87[EUR][1000 genomes]
rs35552948	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35654453	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35730873	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35866593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35891284	0.87[EUR][1000 genomes]
rs36016296	0.87[EUR][1000 genomes]
rs36033343	0.87[EUR][1000 genomes]
rs36113794	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4338039	0.87[EUR][1000 genomes]
rs6467239	0.80[EUR][1000 genomes]
rs71529418	0.80[EUR][1000 genomes]
rs71577853	0.87[EUR][1000 genomes]
rs71577868	0.87[EUR][1000 genomes]
rs71577869	0.87[EUR][1000 genomes]
rs71577875	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71579838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579847	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579850	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579851	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579852	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579854	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71579855	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128989200-129044200	Weak transcription	Ovary	ovary
2	chr7:129006200-129046000	Weak transcription	Aorta	Aorta
3	chr7:129008000-129016600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:129008200-129035000	Weak transcription	Psoas Muscle	Psoas
5	chr7:129008400-129014800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129008400-129016400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:129008400-129019400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:129008400-129020000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:129008400-129044200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:129008600-129013400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:129008600-129014000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:129008600-129014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:129008600-129015000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:129008600-129015600	Weak transcription	Stomach Mucosa	stomach
16	chr7:129008600-129016600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:129008600-129019600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:129008600-129019800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:129008600-129037200	Weak transcription	Fetal Intestine Large	intestine
20	chr7:129008800-129012600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:129008800-129014800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:129008800-129014800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:129008800-129014800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:129008800-129015600	Weak transcription	Small Intestine	intestine
25	chr7:129008800-129016200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:129008800-129016800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:129008800-129017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:129008800-129019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:129008800-129023400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:129008800-129025200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:129008800-129035000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:129008800-129035000	Weak transcription	Fetal Stomach	stomach
33	chr7:129008800-129035200	Weak transcription	Lung	lung
34	chr7:129008800-129039800	Weak transcription	Placenta	Placenta
35	chr7:129009000-129016400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:129009000-129016400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:129009000-129016800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:129009000-129020600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:129009000-129028400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:129009200-129014200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:129009200-129016800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:129009200-129017200	Weak transcription	Colonic Mucosa	Colon
43	chr7:129010400-129041000	Weak transcription	Esophagus	oesophagus
44	chr7:129010800-129014600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:129011000-129013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:129011000-129013600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:129011400-129013400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:129011400-129013600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:129011400-129014000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:129011400-129014800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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