Variant report

Variant	rs2972095
Chromosome Location	chr2:55348392-55348393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55347589..55350399-chr2:55353012..55356550,3	K562	blood:
2	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
3	chr2:55348151..55351160-chr2:55366268..55368623,3	K562	blood:
4	chr2:55339781..55342552-chr2:55346442..55349594,4	K562	blood:
5	chr2:55347566..55351333-chr2:55355556..55357913,4	K562	blood:
6	chr2:55274620..55276240-chr2:55348004..55351084,3	K562	blood:
7	chr2:55347650..55349740-chr2:55350733..55352941,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11674027	0.87[ASN][1000 genomes]
rs1444262	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2920847	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2920850	0.92[AMR][1000 genomes]
rs2920851	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2920855	0.93[ASN][1000 genomes]
rs2920856	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2968782	0.84[AMR][1000 genomes]
rs2972093	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs894961	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[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	nsv522772	chr2:55347472-55349726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
4	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:55344600-55348600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
11	chr2:55345600-55348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:55345600-55350200	Enhancers	Brain Germinal Matrix	brain
13	chr2:55345600-55350200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:55345600-55350400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:55345800-55348400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:55345800-55348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:55345800-55348400	Enhancers	Fetal Thymus	thymus
18	chr2:55345800-55348600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:55345800-55348600	Enhancers	Adipose Nuclei	Adipose
20	chr2:55345800-55348800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:55345800-55348800	Enhancers	NHDF-Ad	bronchial
22	chr2:55345800-55349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:55346000-55351600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:55346200-55350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:55346400-55348600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:55346400-55349600	Weak transcription	HUVEC	blood vessel
27	chr2:55346600-55348600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:55346600-55350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:55346800-55348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:55346800-55348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:55346800-55348400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:55346800-55348400	Enhancers	Fetal Lung	lung
33	chr2:55346800-55348400	Enhancers	Placenta	Placenta
34	chr2:55346800-55348400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:55346800-55348600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:55346800-55348600	Enhancers	NHLF	lung
37	chr2:55346800-55349200	Enhancers	Fetal Stomach	stomach
38	chr2:55346800-55350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:55347000-55348400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:55347000-55348400	Enhancers	Ovary	ovary
41	chr2:55347000-55348400	Enhancers	Psoas Muscle	Psoas
42	chr2:55347200-55348400	Enhancers	Fetal Intestine Large	intestine
43	chr2:55347200-55348400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:55347200-55348400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:55347200-55348400	Flanking Active TSS	K562	blood
46	chr2:55347200-55348600	Enhancers	Fetal Brain Male	brain
47	chr2:55347400-55348400	Enhancers	Aorta	Aorta
48	chr2:55347400-55348400	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:55347400-55348400	Enhancers	NH-A	brain
50	chr2:55347400-55351000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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