Variant report

Variant	rs7578757
Chromosome Location	chr2:73224725-73224726
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73224525..73226989-chr2:73297396..73299577,2	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10166058	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10166220	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10176939	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10177159	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10178854	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10178944	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10189744	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10191665	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10197305	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10209859	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1036512	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12233055	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13388404	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13424057	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1370383	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17008571	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17008611	0.93[EUR][1000 genomes]
rs2421098	0.81[ASN][1000 genomes]
rs4144837	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4514897	0.81[ASN][1000 genomes]
rs4527230	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55974516	0.91[EUR][1000 genomes]
rs58993488	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61161134	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61650913	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62147721	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62147724	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62147732	0.93[EUR][1000 genomes]
rs6546794	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6546796	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6546797	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6709938	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6713655	0.80[ASN][1000 genomes]
rs6717553	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6719333	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6726940	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6732369	0.89[EUR][1000 genomes]
rs6750069	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6754779	0.81[ASN][1000 genomes]
rs6754858	0.81[ASN][1000 genomes]
rs6757131	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759243	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6759733	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732178	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs732179	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs732180	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7570876	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579770	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7580216	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597032	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893258	0.90[ASN][1000 genomes]
rs893259	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309467	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:73208400-73227400	Weak transcription	A549	lung
10	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:73209000-73227200	Weak transcription	HSMM	muscle
14	chr2:73210400-73227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:73210600-73225400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
17	chr2:73211600-73235800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:73212000-73225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
20	chr2:73212400-73227400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:73212400-73236000	Weak transcription	Esophagus	oesophagus
22	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:73213800-73227400	Weak transcription	Gastric	stomach
24	chr2:73213800-73236200	Weak transcription	Pancreas	Pancrea
25	chr2:73214000-73232000	Weak transcription	Aorta	Aorta
26	chr2:73214000-73238400	Weak transcription	Fetal Lung	lung
27	chr2:73214200-73225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:73214200-73247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
30	chr2:73215200-73228400	Weak transcription	Placenta	Placenta
31	chr2:73215400-73236000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:73215800-73235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:73215800-73247400	Weak transcription	Thymus	Thymus
34	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:73216000-73236000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:73216200-73225400	Weak transcription	Lung	lung
37	chr2:73216200-73227600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:73216800-73234400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:73217400-73225600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:73217400-73228000	Weak transcription	Left Ventricle	heart
42	chr2:73217400-73231800	Weak transcription	Fetal Heart	heart
43	chr2:73217400-73236200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:73217400-73249000	Weak transcription	Ovary	ovary
45	chr2:73217600-73225800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:73217600-73227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:73217600-73227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:73217800-73237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:73218000-73227400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:73218400-73225400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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