Variant report

Variant	rs2960571
Chromosome Location	chr1:220864062-220864063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220862132..220866220-chr1:220920879..220923309,4	MCF-7	breast:
2	chr1:220863523..220864334-chr9:138304273..138305038,2	MCF-7	breast:
3	chr1:220863249..220864128-chr1:220950068..220950638,2	K562	blood:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12030411	0.98[ASN][1000 genomes]
rs17008307	0.93[ASN][1000 genomes]
rs337180	0.83[ASN][1000 genomes]
rs364360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384264	0.96[ASN][1000 genomes]
rs405682	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409286	0.96[ASN][1000 genomes]
rs413426	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs416768	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs425437	0.95[AFR][1000 genomes]
rs437078	0.97[AFR][1000 genomes]
rs700036	0.89[ASN][1000 genomes]
rs774128	0.94[ASN][1000 genomes]
rs774130	0.98[ASN][1000 genomes]
rs9431295	0.86[AFR][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	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:220863000-220864600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr1:220863000-220864600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:220863000-220864600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:220863000-220864800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:220863000-220865000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:220863000-220865200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:220863000-220865200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:220863000-220865200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:220863000-220865200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:220863000-220866000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:220863200-220864200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:220863200-220864200	Flanking Active TSS	Colonic Mucosa	Colon
13	chr1:220863200-220864200	Active TSS	A549	lung
14	chr1:220863200-220864200	Bivalent/Poised TSS	HSMM	muscle
15	chr1:220863200-220864400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:220863200-220864400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:220863200-220864400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:220863200-220864400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:220863200-220864400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr1:220863200-220864400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:220863200-220864600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:220863200-220864600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:220863200-220864800	Active TSS	Right Atrium	heart
24	chr1:220863400-220864200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:220863400-220864200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:220863400-220864200	Active TSS	Aorta	Aorta
27	chr1:220863400-220864200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:220863400-220864200	Active TSS	Fetal Heart	heart
29	chr1:220863400-220864400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:220863400-220864400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:220863400-220864400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:220863400-220864400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
33	chr1:220863400-220864400	Active TSS	Gastric	stomach
34	chr1:220863400-220864600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:220863400-220864600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:220863400-220864600	Active TSS	Pancreas	Pancrea
37	chr1:220863400-220864600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr1:220863400-220865000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:220863400-220865000	Active TSS	Fetal Intestine Small	intestine
40	chr1:220863400-220865000	Active TSS	Lung	lung
41	chr1:220863400-220865200	Active TSS	Fetal Brain Female	brain
42	chr1:220863400-220865200	Active TSS	Fetal Kidney	kidney
43	chr1:220863400-220865200	Active TSS	Ovary	ovary
44	chr1:220863400-220865200	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:220863400-220865200	Active TSS	Spleen	Spleen
46	chr1:220863400-220865400	Active TSS	Brain Angular Gyrus	brain
47	chr1:220863400-220866800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:220863600-220864200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:220863600-220864200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220863600-220864200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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