Variant report

Variant	rs17346032
Chromosome Location	chr2:55125360-55125361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55122046..55124252-chr2:55124464..55126303,3	MCF-7	breast:
2	chr2:55120173..55122333-chr2:55124238..55126728,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164641	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195230	0.83[AFR][1000 genomes]
rs13382720	0.82[YRI][hapmap]
rs13383645	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385982	0.90[ASN][1000 genomes]
rs13408207	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13410462	0.88[ASN][1000 genomes]
rs1432104	0.94[ASN][1000 genomes]
rs1898699	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6545454	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545455	0.80[AFR][1000 genomes]
rs6718267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729866	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6746577	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72482058	0.85[ASN][1000 genomes]
rs7355309	0.92[CEU][hapmap]
rs7589959	0.82[CEU][hapmap]
rs7595599	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9309260	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997198	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:55109200-55126800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55109200-55127600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:55120400-55130200	Weak transcription	Hela-S3	cervix
6	chr2:55122000-55130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:55123000-55126800	Weak transcription	HSMMtube	muscle
8	chr2:55123000-55127400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:55123000-55127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55123200-55125400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:55123200-55126800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:55123200-55127000	Enhancers	Thymus	Thymus
13	chr2:55123200-55128200	Weak transcription	HepG2	liver
14	chr2:55123400-55127600	Enhancers	Fetal Thymus	thymus
15	chr2:55123400-55130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:55123600-55126600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:55124000-55125600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:55124000-55126600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:55124400-55126000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:55124400-55126000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:55124600-55125400	Enhancers	Dnd41	blood
22	chr2:55124600-55125600	Enhancers	NHDF-Ad	bronchial
23	chr2:55124600-55125800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:55124600-55126000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:55124600-55127000	Enhancers	Fetal Brain Male	brain
26	chr2:55124800-55125400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr2:55124800-55125400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:55124800-55125400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:55124800-55125400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:55124800-55125400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:55124800-55125800	Enhancers	Small Intestine	intestine
32	chr2:55125000-55125400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:55125000-55125400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:55125000-55125400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:55125000-55125400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr2:55125000-55126200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:55125000-55126800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:55125000-55126800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:55125200-55125400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:55125200-55125600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:55125200-55126000	Enhancers	Fetal Muscle Leg	muscle
42	chr2:55125200-55127600	Enhancers	Fetal Brain Female	brain

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