Variant report

Variant	rs7584992
Chromosome Location	chr2:55183627-55183628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55183331..55185244-chr2:55275914..55277791,2	MCF-7	breast:
2	chr2:55164082..55167109-chr2:55181433..55184478,3	K562	blood:
3	chr2:55181556..55184216-chr2:55338582..55340390,2	K562	blood:
4	chr2:55182667..55184271-chr2:55275610..55277952,2	MCF-7	breast:
5	chr2:55183507..55185896-chr2:55194020..55195726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084445	0.96[AMR][1000 genomes]
rs10170102	0.96[AMR][1000 genomes]
rs10175952	0.86[AMR][1000 genomes]
rs10179491	1.00[AMR][1000 genomes]
rs10180207	0.88[AMR][1000 genomes]
rs10181115	0.96[AMR][1000 genomes]
rs10191684	0.92[AMR][1000 genomes]
rs10191748	0.82[AMR][1000 genomes]
rs10197533	0.80[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs10198096	0.96[AMR][1000 genomes]
rs10207701	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11125554	0.84[AMR][1000 genomes]
rs13385999	1.00[ASW][hapmap];0.86[GIH][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13387710	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13394823	0.92[AMR][1000 genomes]
rs13394824	0.92[AMR][1000 genomes]
rs13400353	1.00[MEX][hapmap]
rs13416852	1.00[MEX][hapmap]
rs17046567	0.96[AMR][1000 genomes]
rs17046569	0.84[GIH][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap];0.96[AMR][1000 genomes]
rs3198123	0.80[LWK][hapmap]
rs4358163	0.82[MEX][hapmap]
rs60989108	0.96[AMR][1000 genomes]
rs6545469	1.00[MEX][hapmap]
rs6715980	0.84[GIH][hapmap];0.82[MEX][hapmap]
rs6725187	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6758258	0.82[MEX][hapmap]
rs72912579	0.86[AMR][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	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
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv2337133	chr2:55183202-55183640	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55170400-55190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:55173000-55193400	Weak transcription	Aorta	Aorta
4	chr2:55173200-55187000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:55173200-55203400	Weak transcription	Gastric	stomach
6	chr2:55173400-55184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:55173600-55194000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:55173600-55195000	Weak transcription	Pancreas	Pancrea
9	chr2:55174800-55194000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:55175400-55193200	Weak transcription	Fetal Brain Female	brain
11	chr2:55175600-55185600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:55175600-55185800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:55175600-55185800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:55175600-55194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:55175800-55184600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:55175800-55193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:55176400-55184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:55177800-55193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:55178200-55193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:55178600-55193400	Weak transcription	Spleen	Spleen
21	chr2:55178800-55183800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:55180400-55189600	Weak transcription	HSMMtube	muscle
23	chr2:55180600-55191600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:55180600-55193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:55180600-55195400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:55180600-55196000	Weak transcription	NH-A	brain
27	chr2:55180800-55191200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:55181400-55184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:55181600-55193600	Weak transcription	Lung	lung
30	chr2:55181600-55203400	Weak transcription	Ovary	ovary
31	chr2:55182000-55183800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:55182000-55184000	Enhancers	Fetal Intestine Large	intestine
33	chr2:55182200-55184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:55182200-55184600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55182200-55185600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:55182400-55183800	Flanking Active TSS	K562	blood
37	chr2:55182400-55186600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:55182600-55183800	Enhancers	A549	lung
39	chr2:55182600-55183800	Enhancers	HepG2	liver
40	chr2:55182600-55184000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:55182800-55183800	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:55182800-55184000	Enhancers	Fetal Intestine Small	intestine
43	chr2:55182800-55185800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:55183000-55184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:55183000-55184400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:55183000-55185000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:55183000-55191600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:55183000-55191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:55183000-55192000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:55183200-55184000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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