Variant report

Variant	rs59975915
Chromosome Location	chr2:208697595-208697596
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	chr2:208633133..208635556-chr2:208696798..208698837,3	MCF-7	breast:
2	chr2:208696402..208698496-chr2:208698854..208701576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163251	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs58524730	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983604	1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73986306	1.00[AMR][1000 genomes]
rs73986311	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986348	1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	1.00[AMR][1000 genomes]
rs73986351	1.00[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208679000-208701400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:208684400-208701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:208684600-208701200	Weak transcription	HSMMtube	muscle
4	chr2:208684600-208701600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:208685000-208698000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:208685200-208701200	Weak transcription	Fetal Kidney	kidney
7	chr2:208685400-208698400	Weak transcription	Esophagus	oesophagus
8	chr2:208685400-208701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:208685400-208701200	Weak transcription	Fetal Lung	lung
10	chr2:208685600-208701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:208687800-208700000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:208688200-208700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:208690800-208701200	Weak transcription	Aorta	Aorta
14	chr2:208692800-208701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:208692800-208702400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:208693000-208700600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:208693000-208701400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:208693200-208698000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:208693200-208698600	Enhancers	Fetal Intestine Large	intestine
20	chr2:208693200-208701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:208693200-208701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:208693200-208703200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:208693400-208698600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:208693400-208699000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:208693400-208700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:208693400-208700800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:208693400-208701200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:208693400-208701200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:208693400-208701400	Weak transcription	Lung	lung
30	chr2:208693400-208711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:208693600-208698000	Weak transcription	Small Intestine	intestine
32	chr2:208693600-208701200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:208693600-208712000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:208693800-208698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:208693800-208698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:208693800-208698000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:208693800-208698000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:208693800-208698000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:208693800-208698400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:208693800-208701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:208693800-208701200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:208693800-208701200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:208693800-208701400	Weak transcription	Thymus	Thymus
45	chr2:208693800-208719800	Weak transcription	Ovary	ovary
46	chr2:208694400-208697600	Enhancers	Colonic Mucosa	Colon
47	chr2:208694600-208700800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:208694600-208712600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:208694600-208763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:208694800-208698800	Enhancers	HepG2	liver

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