Variant report

Variant	rs896182
Chromosome Location	chr7:127807773-127807774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:
2	chr7:127806235..127809170-chr7:127810830..127812397,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEP-2	chr7:127807726-127808018	NONHSAT123172

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10215103	0.82[EUR][1000 genomes]
rs12537834	0.81[AMR][1000 genomes]
rs12706827	0.81[AMR][1000 genomes]
rs322723	0.81[EUR][1000 genomes]
rs322725	0.81[EUR][1000 genomes]
rs4728089	0.84[EUR][1000 genomes]
rs4731406	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6467164	0.84[ASN][1000 genomes]
rs7804281	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	esv989073	chr7:127800713-127812327	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127805400-127808800	Bivalent Enhancer	Fetal Brain Male	brain
2	chr7:127805600-127809200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:127806200-127808000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:127806200-127808400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr7:127806200-127808400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:127806200-127808600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:127806200-127809200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:127806400-127807800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
9	chr7:127806400-127807800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr7:127806400-127808000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127806400-127808400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr7:127806400-127808600	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr7:127806400-127808800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:127806400-127808800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127806400-127808800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:127806400-127808800	Active TSS	Brain Angular Gyrus	brain
17	chr7:127806400-127809000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:127806600-127808000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:127806600-127808000	Active TSS	Right Atrium	heart
20	chr7:127806600-127808200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:127806600-127808200	Flanking Active TSS	Ovary	ovary
22	chr7:127806600-127808200	Bivalent/Poised TSS	A549	lung
23	chr7:127806600-127808400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:127806600-127808400	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr7:127806600-127808600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:127806600-127808800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:127806600-127808800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:127806600-127809000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:127806800-127807800	Active TSS	Pancreas	Pancrea
30	chr7:127806800-127808000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:127806800-127808000	Active TSS	Aorta	Aorta
32	chr7:127806800-127808000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
33	chr7:127806800-127808000	Enhancers	Fetal Heart	heart
34	chr7:127806800-127808200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:127806800-127808200	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr7:127806800-127808600	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr7:127806800-127808600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr7:127807000-127807800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr7:127807000-127807800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
40	chr7:127807000-127807800	Bivalent/Poised TSS	Thymus	Thymus
41	chr7:127807000-127808000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:127807000-127808000	Bivalent/Poised TSS	HepG2	liver
43	chr7:127807000-127808600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr7:127807200-127808000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:127807200-127808000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:127807200-127808800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:127807400-127807800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:127807400-127807800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:127807400-127807800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:127807400-127807800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast

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