Variant report

Variant	rs2348703
Chromosome Location	chr2:20520637-20520638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20520628..20522961-chr2:20529239..20532212,2	K562	blood:
2	chr2:20503262..20504823-chr2:20520357..20523063,2	MCF-7	breast:
3	chr2:20487646..20490086-chr2:20519151..20521903,2	K562	blood:
4	chr2:20472858..20474518-chr2:20518038..20520813,2	K562	blood:
5	chr2:20513928..20515849-chr2:20519028..20520953,2	K562	blood:
6	chr2:20423017..20425604-chr2:20519181..20521361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10175853	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10187080	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10192042	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10206974	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1043400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460451	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10495704	0.95[CEU][hapmap]
rs10856797	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1106111	0.83[CEU][hapmap]
rs11096654	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11096659	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11888357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896241	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898408	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11900127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902769	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11903745	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12373772	0.81[CEU][hapmap]
rs12373819	0.81[CEU][hapmap]
rs12464428	0.80[CEU][hapmap]
rs12465832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472685	0.88[ASN][1000 genomes]
rs12473500	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12474897	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478265	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393733	0.88[ASN][1000 genomes]
rs17612703	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2002090	0.83[CEU][hapmap]
rs2072464	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2080190	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2110410	0.91[CEU][hapmap]
rs2820	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34678899	0.87[ASN][1000 genomes]
rs3796066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821218	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62123442	0.88[ASN][1000 genomes]
rs6748274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785217	0.89[ASN][1000 genomes]
rs72785218	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785278	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785282	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72785295	0.81[EUR][1000 genomes]
rs72785297	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785298	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785300	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785301	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787406	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787409	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787411	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787415	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787433	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787500	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72787501	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72788905	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72788906	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs741188	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7558385	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558833	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563245	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7579571	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7582642	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595266	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306890	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306891	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[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	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20471800-20533800	Strong transcription	Dnd41	blood
7	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:20489800-20525800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:20491400-20522600	Strong transcription	HepG2	liver
14	chr2:20492400-20525800	Strong transcription	Liver	Liver
15	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
16	chr2:20500200-20522400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:20501600-20525000	Strong transcription	Placenta	Placenta
18	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:20505200-20526000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:20505200-20526600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:20505600-20523400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:20507800-20527600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:20508400-20522000	Weak transcription	Lung	lung
24	chr2:20511800-20520800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
26	chr2:20514800-20524800	Strong transcription	GM12878-XiMat	blood
27	chr2:20514800-20525000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:20515200-20525600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:20515200-20526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:20515200-20527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:20515400-20521000	Strong transcription	A549	lung
32	chr2:20516000-20521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:20516200-20525200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:20516200-20525400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:20516400-20521400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:20516400-20523400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:20516800-20521400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:20516800-20522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20516800-20529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:20517200-20525000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:20517400-20522000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:20517600-20522200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:20517600-20525000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:20517800-20521200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:20517800-20522400	Strong transcription	HUVEC	blood vessel
47	chr2:20517800-20527000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:20517800-20527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:20517800-20527600	Weak transcription	Pancreas	Pancrea
50	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain

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