Variant report

Variant	rs7602566
Chromosome Location	chr2:148993253-148993254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13004430	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34295088	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34380714	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35194618	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35591330	0.82[EUR][1000 genomes]
rs4972275	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55640660	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6757939	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72856343	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148928600-148993600	Weak transcription	HSMM	muscle
2	chr2:148959400-148993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:148966000-148994400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:148980200-148993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:148981400-148996600	Weak transcription	Psoas Muscle	Psoas
6	chr2:148982600-148993600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:148983600-148993800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:148983600-148996000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:148984400-149011800	Weak transcription	Gastric	stomach
10	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:148985000-148994200	Weak transcription	Fetal Kidney	kidney
12	chr2:148985400-148993600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
14	chr2:148985600-148993400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:148985600-148994000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:148985600-148994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:148985800-148993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:148986000-149002200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:148986200-148993600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:148986200-148994400	Weak transcription	Liver	Liver
21	chr2:148986400-148994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:148986600-148994000	Weak transcription	Fetal Brain Male	brain
23	chr2:148986800-148993600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:148987400-148994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:148987600-148993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:148987600-148993600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:148987600-148993800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:148987600-148996200	Weak transcription	Esophagus	oesophagus
30	chr2:148987600-148997200	Weak transcription	Lung	lung
31	chr2:148987800-148993600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:148987800-148993600	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:148987800-148993600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:148987800-148994600	Weak transcription	Thymus	Thymus
35	chr2:148988000-148993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:148988000-148993800	Weak transcription	Adipose Nuclei	Adipose
37	chr2:148988000-148994200	Weak transcription	Dnd41	blood
38	chr2:148988200-148993600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:148988200-148994600	Weak transcription	HUVEC	blood vessel
40	chr2:148988400-148993400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:148988400-148993800	Weak transcription	Fetal Brain Female	brain
42	chr2:148988800-148993400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:148988800-148993400	Weak transcription	HSMMtube	muscle
44	chr2:148988800-148994800	Weak transcription	Aorta	Aorta
45	chr2:148989000-148993400	Weak transcription	Fetal Stomach	stomach
46	chr2:148989000-148993400	Weak transcription	Left Ventricle	heart
47	chr2:148989000-148993600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:148989000-148997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:148989200-149000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:148989400-148994200	Weak transcription	Small Intestine	intestine

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