Variant report

Variant	rs12995388
Chromosome Location	chr2:153531962-153531963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153529339..153532931-chr2:153537467..153540997,3	K562	blood:
2	chr2:153529995..153532744-chr2:153533957..153536100,3	K562	blood:
3	chr2:153529995..153533178-chr2:153533957..153537180,5	K562	blood:
4	chr2:153508390..153510353-chr2:153529537..153532383,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931263	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931271	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931279	0.83[EUR][1000 genomes]
rs1135617	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674911	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676069	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11694512	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11901227	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12475871	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478681	1.00[ASN][1000 genomes]
rs12693429	1.00[ASN][1000 genomes]
rs12989903	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006652	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13014141	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017131	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023779	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023975	0.83[EUR][1000 genomes]
rs1370499	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831440	0.83[EUR][1000 genomes]
rs16831456	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328776	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400456	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400938	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400952	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400980	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2083097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346551	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34199006	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34454505	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34469468	0.84[EUR][1000 genomes]
rs34619076	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34775858	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35002744	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35421285	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35754252	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35894330	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937874	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36107565	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36122595	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811568	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811569	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575677	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434172	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66492085	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66849546	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728189	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417232	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417235	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871148	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591590	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7598878	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][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	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
3	chr2:153505400-153539200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:153505400-153540200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:153505600-153534400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:153505600-153537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:153505600-153538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153506000-153538000	Strong transcription	Liver	Liver
9	chr2:153506200-153539800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:153507000-153538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:153507000-153541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:153507200-153538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:153508000-153542000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:153508200-153532800	Strong transcription	HSMM	muscle
17	chr2:153508200-153533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:153508400-153537600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:153508400-153537800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:153508400-153538000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:153508400-153538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:153508400-153538400	Strong transcription	A549	lung
23	chr2:153508600-153539600	Strong transcription	Dnd41	blood
24	chr2:153508800-153535000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:153508800-153540400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:153509000-153539600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153509400-153538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:153509800-153535000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:153509800-153540000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:153510400-153539400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:153510400-153539600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:153510400-153540200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:153510600-153536000	Strong transcription	Fetal Intestine Large	intestine
35	chr2:153510600-153537800	Strong transcription	NH-A	brain
36	chr2:153510600-153539800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:153510600-153540800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:153510800-153538400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:153511000-153537800	Strong transcription	Adipose Nuclei	Adipose
40	chr2:153511000-153538200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153511000-153538600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:153511000-153539600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:153511600-153533800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:153511600-153538000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:153511800-153537800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:153512000-153538600	Strong transcription	K562	blood
47	chr2:153512200-153533400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:153512400-153533400	Strong transcription	Osteobl	bone
49	chr2:153512800-153533600	Strong transcription	Primary B cells from cord blood	blood
50	chr2:153512800-153533600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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