Variant report

Variant	rs7570298
Chromosome Location	chr2:55202455-55202456
allele	A/G
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	POLR2A	chr2:55202409-55202714	K562	blood:	n/a	n/a
2	POLR2A	chr2:55201969-55202969	U87	brain:	n/a	n/a
3	POLR2A	chr2:55201618-55204032	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:55201927-55202764	U87	brain:	n/a	n/a
5	POLR2A	chr2:55201696-55205299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55192020..55193773-chr2:55201950..55203496,2	K562	blood:
2	chr2:55199321..55201590-chr2:55202195..55204669,2	MCF-7	breast:

Variant related genes	Relation type
RTN4	TF binding region
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10084445	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10170102	0.91[EUR][1000 genomes]
rs10175952	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10179491	0.81[EUR][1000 genomes]
rs10181115	0.91[EUR][1000 genomes]
rs10182203	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10197533	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10198096	0.92[EUR][1000 genomes]
rs10207701	0.91[EUR][1000 genomes]
rs11125554	0.85[EUR][1000 genomes]
rs13385999	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13387710	0.91[EUR][1000 genomes]
rs13400353	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17046567	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17046569	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1822617	0.82[AFR][1000 genomes]
rs4358163	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60989108	0.92[EUR][1000 genomes]
rs6715980	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72912579	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55173200-55203400	Weak transcription	Gastric	stomach
2	chr2:55181600-55203400	Weak transcription	Ovary	ovary
3	chr2:55183200-55206800	Weak transcription	Stomach Mucosa	stomach
4	chr2:55184800-55214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55190000-55203400	Weak transcription	Small Intestine	intestine
6	chr2:55191800-55203600	Weak transcription	Fetal Lung	lung
7	chr2:55191800-55211600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:55193400-55214800	Strong transcription	HepG2	liver
10	chr2:55193600-55214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:55193800-55211800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:55194000-55211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:55194200-55204400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:55194600-55204400	Strong transcription	Primary T cells from cord blood	blood
15	chr2:55195000-55203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:55195000-55215200	Strong transcription	Dnd41	blood
17	chr2:55195200-55202600	Strong transcription	Osteobl	bone
18	chr2:55195200-55205600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:55195200-55205800	Strong transcription	HMEC	breast
20	chr2:55195400-55205200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:55195600-55210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:55195800-55216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:55196000-55203400	Weak transcription	Pancreas	Pancrea
24	chr2:55196000-55205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:55196200-55202600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:55196200-55202600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:55196200-55203400	Weak transcription	Right Atrium	heart
28	chr2:55196200-55214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:55196200-55226400	Weak transcription	Thymus	Thymus
30	chr2:55196600-55208400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:55196600-55217200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:55196600-55217200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:55196800-55203400	Strong transcription	Fetal Thymus	thymus
34	chr2:55196800-55203800	Strong transcription	HUVEC	blood vessel
35	chr2:55196800-55204600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:55196800-55204800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:55196800-55205600	Strong transcription	NHEK	skin
38	chr2:55197000-55203400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:55197200-55202600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:55197200-55204800	Strong transcription	K562	blood
41	chr2:55197400-55202600	Weak transcription	Fetal Brain Female	brain
42	chr2:55197400-55203400	Weak transcription	Aorta	Aorta
43	chr2:55197400-55203400	Weak transcription	Esophagus	oesophagus
44	chr2:55197600-55202600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:55197800-55207800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:55198000-55203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:55198000-55203400	Weak transcription	Left Ventricle	heart
48	chr2:55198200-55203400	Weak transcription	Spleen	Spleen
49	chr2:55198200-55212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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