Variant report

Variant	rs2237499
Chromosome Location	chr7:39740846-39740847
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	chr7:39739429..39741292-chr7:39741440..39743225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228554	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2189837	0.82[ASN][1000 genomes]
rs35569526	0.87[ASN][1000 genomes]
rs3823742	0.81[ASN][1000 genomes]
rs4723891	0.82[ASN][1000 genomes]
rs6952363	0.82[ASN][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
2	chr7:39723600-39742800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:39723800-39743000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:39724200-39741200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:39726600-39742800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:39727400-39741600	Strong transcription	Fetal Muscle Leg	muscle
7	chr7:39727400-39747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:39727600-39741200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr7:39729000-39742400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:39730000-39741600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:39730600-39749200	Weak transcription	Ovary	ovary
12	chr7:39732000-39748000	Strong transcription	HUVEC	blood vessel
13	chr7:39732000-39749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:39732800-39741000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:39733000-39741600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:39734200-39746200	Weak transcription	Fetal Kidney	kidney
17	chr7:39734600-39743000	Strong transcription	HSMM	muscle
18	chr7:39735200-39741400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:39735600-39741200	Strong transcription	Fetal Intestine Large	intestine
20	chr7:39735600-39741200	Strong transcription	NH-A	brain
21	chr7:39735600-39741400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:39735600-39741600	Strong transcription	HSMMtube	muscle
23	chr7:39735600-39742000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:39735600-39742600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:39735600-39743200	Strong transcription	Primary B cells from cord blood	blood
26	chr7:39735600-39743400	Strong transcription	Primary T cells from cord blood	blood
27	chr7:39735800-39741200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:39735800-39741200	Strong transcription	Dnd41	blood
29	chr7:39735800-39741400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:39735800-39741600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:39736000-39741600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:39736000-39743600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:39736400-39741000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:39736400-39741400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:39736600-39741200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:39736600-39749400	Weak transcription	Fetal Heart	heart
37	chr7:39737200-39741200	Strong transcription	Osteobl	bone
38	chr7:39737200-39743000	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:39737400-39742800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:39737400-39743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:39737400-39749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:39737600-39742400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:39737600-39742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:39737600-39742800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:39737600-39743200	Strong transcription	NHDF-Ad	bronchial
46	chr7:39737600-39748800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:39737800-39741400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:39737800-39741800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:39737800-39741800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:39737800-39749400	Weak transcription	Brain Cingulate Gyrus	brain

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