Variant report

Variant	rs2701269
Chromosome Location	chr2:173351169-173351170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10451559	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930557	0.93[CEU][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886058	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11892462	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895820	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012115	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021042	0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027362	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027432	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033614	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398305	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412041	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740327	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701270	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737084	1.00[CEU][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463972	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480655	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884226	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277286	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401899	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532264	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34926868	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938988	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970908	1.00[ASN][1000 genomes]
rs35981026	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792259	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347526	0.85[EUR][1000 genomes]
rs59424951	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61486827	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167823	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167824	1.00[ASN][1000 genomes]
rs6433365	1.00[ASN][1000 genomes]
rs6739419	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746243	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580589	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596665	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173327200-173353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:173328800-173353400	Weak transcription	Right Ventricle	heart
5	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
6	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
7	chr2:173330600-173351400	Weak transcription	Psoas Muscle	Psoas
8	chr2:173330600-173351400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:173330600-173351600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:173330600-173352400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:173330600-173352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:173330600-173352600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:173330600-173353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:173330600-173353200	Weak transcription	Aorta	Aorta
15	chr2:173330600-173353400	Weak transcription	Fetal Stomach	stomach
16	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:173330600-173373200	Strong transcription	NHEK	skin
19	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
23	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:173331000-173373800	Strong transcription	HMEC	breast
27	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:173332400-173351400	Weak transcription	Spleen	Spleen
30	chr2:173335400-173354000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:173337800-173360200	Strong transcription	Fetal Thymus	thymus
32	chr2:173342600-173353600	Weak transcription	A549	lung
33	chr2:173343000-173360200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:173343800-173351800	Weak transcription	Liver	Liver
35	chr2:173344000-173356000	Weak transcription	Fetal Kidney	kidney
36	chr2:173344400-173352600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:173345400-173351600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:173345400-173353000	Weak transcription	Lung	lung
39	chr2:173345600-173353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:173345800-173359800	Weak transcription	Placenta	Placenta
41	chr2:173345800-173360800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:173346000-173351400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:173346000-173352000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:173346000-173352800	Weak transcription	NH-A	brain
45	chr2:173346000-173354200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:173346000-173360800	Strong transcription	HSMM	muscle
47	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:173346400-173351400	Weak transcription	Left Ventricle	heart

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