Variant report

Variant	rs59125245
Chromosome Location	chr2:234290609-234290610
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234289947..234291618-chr2:234298094..234300510,2	MCF-7	breast:
2	chr2:234179050..234180809-chr2:234289947..234292928,2	MCF-7	breast:
3	chr2:234289741..234291350-chr2:234292115..234294515,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73995910	0.80[AFR][1000 genomes]
rs73995917	0.90[AFR][1000 genomes]
rs7588587	0.95[AFR][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:234265000-234295000	Weak transcription	Osteobl	bone
5	chr2:234265200-234295000	Weak transcription	NH-A	brain
6	chr2:234265800-234293000	Weak transcription	HMEC	breast
7	chr2:234266000-234292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:234266000-234292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:234266000-234293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:234266400-234294000	Weak transcription	Fetal Brain Male	brain
11	chr2:234268400-234293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:234269200-234293400	Weak transcription	Right Atrium	heart
13	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:234273000-234292200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:234274000-234295200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:234277200-234292600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:234278600-234291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:234278600-234292200	Weak transcription	Ovary	ovary
21	chr2:234278600-234292800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:234278600-234292800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:234278600-234293000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:234278600-234293600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:234278600-234293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:234278600-234294000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:234278600-234294000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:234278800-234293000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:234279000-234292600	Weak transcription	NHEK	skin
30	chr2:234279000-234293000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:234279200-234293200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:234279200-234293400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:234279200-234293600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:234279200-234294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:234280400-234294800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:234280600-234293200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:234281800-234296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:234282000-234291200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:234282000-234292000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:234282000-234292800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:234282200-234293000	Weak transcription	Gastric	stomach
42	chr2:234282200-234293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:234282200-234293600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:234282400-234294400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:234282400-234298000	Weak transcription	Dnd41	blood
46	chr2:234282600-234291000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:234284000-234293800	Weak transcription	Colonic Mucosa	Colon
48	chr2:234284600-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:234284800-234291200	Weak transcription	Thymus	Thymus
50	chr2:234284800-234292400	Weak transcription	Fetal Lung	lung

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