Variant report

Variant	rs60391171
Chromosome Location	chr2:86731092-86731093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86730870..86733454-chr2:86738287..86740838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10179968	1.00[AMR][1000 genomes]
rs10192729	1.00[AMR][1000 genomes]
rs10496321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394211	1.00[AMR][1000 genomes]
rs13427212	1.00[AMR][1000 genomes]
rs1607448	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027161	1.00[AMR][1000 genomes]
rs55645731	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56301854	1.00[AMR][1000 genomes]
rs58382371	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59520922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721311	0.83[AMR][1000 genomes]
rs73945284	1.00[AMR][1000 genomes]
rs73945285	1.00[AMR][1000 genomes]
rs73945286	1.00[AMR][1000 genomes]
rs73945298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73945300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946205	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73947226	1.00[AMR][1000 genomes]
rs73949508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949841	1.00[AMR][1000 genomes]
rs73949843	0.83[AMR][1000 genomes]
rs7600275	1.00[AMR][1000 genomes]
rs7609052	0.83[AMR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86709200-86737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:86719800-86734600	Weak transcription	Psoas Muscle	Psoas
4	chr2:86724600-86737800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr2:86725400-86733200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:86726000-86731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:86726400-86735400	Weak transcription	NHLF	lung
8	chr2:86726400-86737400	Weak transcription	HUVEC	blood vessel
9	chr2:86726400-86741800	Weak transcription	NH-A	brain
10	chr2:86726400-86753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:86726600-86736400	Weak transcription	NHDF-Ad	bronchial
12	chr2:86726600-86748600	Weak transcription	Hela-S3	cervix
13	chr2:86726800-86739000	Weak transcription	K562	blood
14	chr2:86727000-86737200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:86727400-86734400	Weak transcription	Fetal Heart	heart
16	chr2:86727600-86731800	Weak transcription	HSMMtube	muscle
17	chr2:86727600-86732600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:86727600-86734600	Weak transcription	HMEC	breast
19	chr2:86727800-86732000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:86728000-86731800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:86728000-86731800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:86728000-86732000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:86728000-86732000	Weak transcription	Fetal Kidney	kidney
24	chr2:86728000-86732000	Weak transcription	Gastric	stomach
25	chr2:86728000-86732400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:86728000-86732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:86728000-86734200	Weak transcription	HSMM	muscle
28	chr2:86728000-86737600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:86728000-86737600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:86728000-86737600	Strong transcription	Adipose Nuclei	Adipose
31	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:86728000-86737800	Strong transcription	Fetal Intestine Large	intestine
34	chr2:86728000-86738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:86728000-86738400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:86728200-86731200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:86728200-86731800	Weak transcription	Ovary	ovary
38	chr2:86728200-86737800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:86728200-86737800	Weak transcription	Stomach Mucosa	stomach
40	chr2:86728200-86738400	Strong transcription	Dnd41	blood
41	chr2:86728200-86755800	Weak transcription	Fetal Brain Male	brain
42	chr2:86728400-86732000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:86728400-86732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:86728400-86732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:86728400-86732200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:86728400-86736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:86728400-86737800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:86728400-86738000	Strong transcription	Liver	Liver
49	chr2:86728400-86738400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:86728400-86738400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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