Variant report

Variant	rs34702663
Chromosome Location	chr2:173973589-173973590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173972593..173975547-chr2:173981865..173984989,3	MCF-7	breast:
2	chr2:173972338..173974560-chr2:173994516..173997449,2	K562	blood:
3	chr2:173954752..173958851-chr2:173972387..173974213,3	K562	blood:
4	chr2:173965020..173969595-chr2:173970768..173975249,5	K562	blood:
5	chr2:173938768..173940892-chr2:173972337..173974150,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10930579	0.81[ASN][1000 genomes]
rs12615166	0.85[ASN][1000 genomes]
rs12616714	0.81[ASN][1000 genomes]
rs12986917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987496	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12989116	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997078	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12998711	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13004212	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017438	0.81[ASN][1000 genomes]
rs13022800	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13029949	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13032010	0.85[ASN][1000 genomes]
rs16861272	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17302977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076857	0.86[ASN][1000 genomes]
rs2289397	0.81[ASN][1000 genomes]
rs2289399	0.81[ASN][1000 genomes]
rs34472765	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34681024	0.83[ASN][1000 genomes]
rs34862313	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35250703	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35599077	0.83[ASN][1000 genomes]
rs36102078	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36103648	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3754741	0.81[ASN][1000 genomes]
rs3754743	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3754744	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3769161	0.80[ASN][1000 genomes]
rs3769167	0.81[ASN][1000 genomes]
rs3769187	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3769192	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769194	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769199	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769203	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55913048	0.81[ASN][1000 genomes]
rs56151459	0.85[ASN][1000 genomes]
rs56193548	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56342397	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433395	0.91[ASN][1000 genomes]
rs6741675	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67422536	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71417423	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72905046	0.90[ASN][1000 genomes]
rs72905080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:173955600-173984000	Weak transcription	Gastric	stomach
5	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
7	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:173958200-173973800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:173958200-173974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:173959800-173974200	Weak transcription	HepG2	liver
12	chr2:173961800-173974400	Weak transcription	NHLF	lung
13	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:173965000-173974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
17	chr2:173965400-173987200	Weak transcription	Dnd41	blood
18	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:173965600-173973800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:173966800-173973800	Weak transcription	NHEK	skin
22	chr2:173967600-173973800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:173968200-173974600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:173968600-173973600	Weak transcription	GM12878-XiMat	blood
25	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:173970000-173973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:173970000-173983200	Weak transcription	Right Atrium	heart
29	chr2:173971000-173974800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:173971200-173973600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:173971200-173974000	Enhancers	Fetal Heart	heart
32	chr2:173971600-173974800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:173971600-173985600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:173971800-173973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:173971800-173980400	Weak transcription	Ovary	ovary
36	chr2:173972000-173973600	Weak transcription	HSMMtube	muscle
37	chr2:173972000-173974200	Weak transcription	K562	blood
38	chr2:173972200-173980200	Weak transcription	Psoas Muscle	Psoas
39	chr2:173972200-173983800	Weak transcription	Lung	lung
40	chr2:173972600-173974000	Enhancers	Osteobl	bone
41	chr2:173972600-173974800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:173972600-173983800	Weak transcription	Right Ventricle	heart
43	chr2:173973200-173973600	Transcr. at gene 5' and 3'	A549	lung
44	chr2:173973200-173973800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:173973200-173974000	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:173973200-173974800	Enhancers	HSMM	muscle
47	chr2:173973200-173974800	Enhancers	NHDF-Ad	bronchial
48	chr2:173973200-173983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:173973400-173973800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:173973400-173974000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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