Variant report

Variant	rs34668102
Chromosome Location	chr2:153534710-153534711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153529995..153533178-chr2:153533957..153537180,5	K562	blood:
2	chr2:153533560..153536051-chr2:153572922..153575859,2	K562	blood:
3	chr2:153501231..153504179-chr2:153533212..153536871,4	K562	blood:
4	chr2:153529995..153532744-chr2:153533957..153536100,3	K562	blood:

Variant related genes	Relation type
ENSG00000196504	Chromatin interaction
ENSG00000177917	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10172024	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181485	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10200667	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036526	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065266	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931229	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1128804	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11544718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899051	0.89[ASN][1000 genomes]
rs12477881	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12621561	0.91[ASN][1000 genomes]
rs12997814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005368	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010731	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13017428	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13031469	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13419068	0.91[ASN][1000 genomes]
rs1370498	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437678	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831548	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831740	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17328734	0.96[ASN][1000 genomes]
rs17400645	0.88[ASN][1000 genomes]
rs1962313	0.88[ASN][1000 genomes]
rs1986743	0.85[ASN][1000 genomes]
rs1992146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304559	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346534	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346539	0.91[ASN][1000 genomes]
rs2346540	0.91[ASN][1000 genomes]
rs2346541	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346542	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346543	0.88[ASN][1000 genomes]
rs2346549	0.88[ASN][1000 genomes]
rs2346550	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3171980	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585982	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3748937	0.88[ASN][1000 genomes]
rs3748938	0.85[ASN][1000 genomes]
rs3748939	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762503	0.91[ASN][1000 genomes]
rs3762506	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762507	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811566	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233660	0.88[ASN][1000 genomes]
rs4267470	0.88[ASN][1000 genomes]
rs4580346	0.82[ASN][1000 genomes]
rs4664121	0.91[ASN][1000 genomes]
rs4664122	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664601	0.91[ASN][1000 genomes]
rs4664602	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664604	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664605	0.87[ASN][1000 genomes]
rs4664606	0.87[ASN][1000 genomes]
rs4664607	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664609	0.87[ASN][1000 genomes]
rs4664610	0.86[ASN][1000 genomes]
rs55785027	0.87[EUR][1000 genomes]
rs56283545	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61049574	0.80[ASN][1000 genomes]
rs6434161	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434162	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713779	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723574	0.84[ASN][1000 genomes]
rs6727279	0.89[ASN][1000 genomes]
rs6746079	0.91[ASN][1000 genomes]
rs6746321	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6748160	0.87[ASN][1000 genomes]
rs715047	0.90[ASN][1000 genomes]
rs72871191	0.91[ASN][1000 genomes]
rs72872607	0.91[ASN][1000 genomes]
rs7556673	0.91[ASN][1000 genomes]
rs7558920	0.86[ASN][1000 genomes]
rs7559219	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560393	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570759	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7576152	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576847	0.83[ASN][1000 genomes]
rs7582253	0.91[ASN][1000 genomes]
rs7589899	0.80[ASN][1000 genomes]
rs7592669	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593347	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599946	0.88[ASN][1000 genomes]
rs7605709	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608603	0.88[ASN][1000 genomes]
rs9288121	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288125	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288127	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9646744	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789505	0.91[ASN][1000 genomes]
rs9789521	0.89[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	chr2:153505600-153537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153505600-153538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:153506000-153538000	Strong transcription	Liver	Liver
8	chr2:153506200-153539800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:153507000-153538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:153507000-153541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:153507200-153538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:153508000-153542000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:153508400-153537600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:153508400-153537800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:153508400-153538000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:153508400-153538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:153508400-153538400	Strong transcription	A549	lung
20	chr2:153508600-153539600	Strong transcription	Dnd41	blood
21	chr2:153508800-153535000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:153508800-153540400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:153509000-153539600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:153509400-153538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:153509800-153535000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:153509800-153540000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:153510400-153539400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:153510400-153539600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:153510400-153540200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:153510600-153536000	Strong transcription	Fetal Intestine Large	intestine
32	chr2:153510600-153537800	Strong transcription	NH-A	brain
33	chr2:153510600-153539800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:153510600-153540800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:153510800-153538400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:153511000-153537800	Strong transcription	Adipose Nuclei	Adipose
37	chr2:153511000-153538200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:153511000-153538600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:153511000-153539600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:153511600-153538000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:153511800-153537800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:153512000-153538600	Strong transcription	K562	blood
43	chr2:153515800-153534800	Weak transcription	Fetal Heart	heart
44	chr2:153518400-153551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:153518800-153538400	Strong transcription	HepG2	liver
46	chr2:153518800-153558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:153520000-153538200	Strong transcription	NHDF-Ad	bronchial
48	chr2:153521800-153538200	Strong transcription	Placenta	Placenta
49	chr2:153523000-153557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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