Variant report

Variant	rs6724988
Chromosome Location	chr2:10147201-10147202
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:10146701-10147529	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:10147182-10147226	MCF-7	breast:	n/a	n/a
3	GATA2	chr2:10146769-10147241	SH-SY5Y	brain:	n/a	n/a
4	GATA1	chr2:10146626-10147256	PBDE	blood:	n/a	n/a
5	REST	chr2:10146755-10147201	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10146994..10149729-chr2:10182824..10184485,2	MCF-7	breast:
2	chr2:10147171..10148722-chr2:10150073..10151791,3	K562	blood:

Variant related genes	Relation type
ENSG00000188525	TF binding region
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1469541	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73913955	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:10125000-10147600	Weak transcription	K562	blood
4	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10137000-10148000	Weak transcription	Hela-S3	cervix
9	chr2:10137600-10149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:10139800-10150400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10142000-10147600	Weak transcription	HepG2	liver
13	chr2:10142400-10148200	Enhancers	Adipose Nuclei	Adipose
14	chr2:10142800-10148000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:10145800-10151000	Enhancers	Pancreas	Pancrea
16	chr2:10146400-10147400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:10146400-10147600	Enhancers	Left Ventricle	heart
18	chr2:10146400-10148000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:10146400-10148800	Enhancers	Liver	Liver
20	chr2:10146400-10148800	Enhancers	Gastric	stomach
21	chr2:10146400-10150800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:10146400-10150800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:10146400-10151200	Enhancers	Placenta	Placenta
24	chr2:10146600-10147400	Enhancers	Fetal Heart	heart
25	chr2:10146600-10147400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr2:10146600-10147800	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr2:10146600-10148800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:10146600-10148800	Enhancers	Right Atrium	heart
29	chr2:10146800-10147400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:10146800-10147400	Enhancers	Lung	lung
31	chr2:10146800-10147600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10146800-10147800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr2:10146800-10148400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr2:10146800-10148800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:10146800-10150200	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:10146800-10150800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:10146800-10150800	Enhancers	HSMM	muscle
38	chr2:10146800-10151000	Enhancers	NHDF-Ad	bronchial
39	chr2:10146800-10151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:10147000-10147400	Enhancers	Stomach Mucosa	stomach
41	chr2:10147000-10147400	Enhancers	HMEC	breast
42	chr2:10147000-10147800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:10147000-10148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:10147000-10148200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:10147000-10148400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:10147000-10148400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:10147000-10148800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:10147000-10150600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:10147000-10150800	Enhancers	HSMMtube	muscle
50	chr2:10147200-10147400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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