Variant report

Variant	rs7597714
Chromosome Location	chr2:205707756-205707757
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	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55941034	1.00[AMR][1000 genomes]
rs57531270	1.00[AMR][1000 genomes]
rs58416129	1.00[AMR][1000 genomes]
rs59381758	1.00[AMR][1000 genomes]
rs60086789	1.00[AMR][1000 genomes]
rs60446736	1.00[AMR][1000 genomes]
rs61001089	1.00[AMR][1000 genomes]
rs61286794	1.00[AMR][1000 genomes]
rs6713878	1.00[AMR][1000 genomes]
rs6753755	1.00[AMR][1000 genomes]
rs73982523	1.00[AMR][1000 genomes]
rs73982525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982529	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982531	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982556	1.00[AMR][1000 genomes]
rs73982587	1.00[AMR][1000 genomes]
rs73982600	1.00[AMR][1000 genomes]
rs73984428	1.00[AMR][1000 genomes]
rs73984429	1.00[AMR][1000 genomes]
rs73984430	1.00[AMR][1000 genomes]
rs73984488	1.00[AMR][1000 genomes]
rs73984489	1.00[AMR][1000 genomes]
rs73984490	1.00[AMR][1000 genomes]
rs7579299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv3120	chr2:205695611-205713292	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3459948	chr2:205705963-205712223	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3459947	chr2:205706103-205712058	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3459949	chr2:205706103-205712058	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv12848	chr2:205706215-205711954	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205705200-205708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:205706800-205708600	Enhancers	Adipose Nuclei	Adipose
4	chr2:205706800-205708600	Enhancers	Fetal Lung	lung
5	chr2:205707000-205707800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:205707000-205708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:205707000-205708000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:205707000-205708200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:205707000-205708200	Enhancers	Brain Anterior Caudate	brain
10	chr2:205707000-205708400	Enhancers	Colon Smooth Muscle	Colon
11	chr2:205707000-205708600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:205707000-205708800	Enhancers	NHLF	lung
13	chr2:205707200-205707800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:205707200-205708000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:205707200-205708200	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:205707200-205708200	Flanking Active TSS	A549	lung
17	chr2:205707200-205708200	Enhancers	Hela-S3	cervix
18	chr2:205707400-205707800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:205707400-205707800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:205707400-205707800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:205707400-205708200	Enhancers	Brain Hippocampus Middle	brain
22	chr2:205707400-205708400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:205707400-205708400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:205707400-205708400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:205707400-205708400	Enhancers	Fetal Stomach	stomach
26	chr2:205707400-205708400	Enhancers	Ovary	ovary
27	chr2:205707400-205708400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:205707400-205708400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:205707400-205708400	Flanking Active TSS	NHEK	skin
30	chr2:205707400-205709000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:205707600-205707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:205707600-205707800	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr2:205707600-205708000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:205707600-205708000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:205707600-205708000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:205707600-205708000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:205707600-205708000	Flanking Active TSS	HSMM	muscle
38	chr2:205707600-205708000	Flanking Active TSS	NH-A	brain
39	chr2:205707600-205708000	Flanking Active TSS	Osteobl	bone
40	chr2:205707600-205708200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:205707600-205708200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:205707600-205708200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:205707600-205708200	Flanking Active TSS	HSMMtube	muscle
44	chr2:205707600-205708200	Flanking Active TSS	HUVEC	blood vessel
45	chr2:205707600-205708200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:205707600-205708400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:205707600-205708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:205707600-205708400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:205707600-205708400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:205707600-205708400	Enhancers	Psoas Muscle	Psoas

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