Variant report

Variant	rs13426989
Chromosome Location	chr2:20532973-20532974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20531227..20533989-chr2:20538784..20541462,3	K562	blood:
2	chr2:20532864..20537244-chr2:20546582..20551669,7	K562	blood:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10153828	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10167509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168575	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171025	1.00[ASN][1000 genomes]
rs10171861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171976	1.00[YRI][hapmap]
rs10172088	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174768	1.00[ASN][1000 genomes]
rs10176257	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs10177428	1.00[ASN][1000 genomes]
rs10178561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182834	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194789	1.00[ASN][1000 genomes]
rs10195153	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs10195817	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197941	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198897	1.00[ASN][1000 genomes]
rs10204489	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206963	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10207798	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208668	1.00[ASN][1000 genomes]
rs13390701	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391140	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421653	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13425933	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13429586	1.00[ASN][1000 genomes]
rs28732678	1.00[ASN][1000 genomes]
rs55904622	1.00[ASN][1000 genomes]
rs56337814	0.89[AMR][1000 genomes]
rs57065686	1.00[ASN][1000 genomes]
rs57459161	1.00[ASN][1000 genomes]
rs58774661	1.00[ASN][1000 genomes]
rs59901600	1.00[ASN][1000 genomes]
rs60984167	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62111434	1.00[ASN][1000 genomes]
rs62111435	1.00[ASN][1000 genomes]
rs62111436	1.00[ASN][1000 genomes]
rs62111437	1.00[ASN][1000 genomes]
rs62111439	1.00[ASN][1000 genomes]
rs62123438	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123441	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123443	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62123453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123456	1.00[ASN][1000 genomes]
rs62123458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124592	1.00[ASN][1000 genomes]
rs62124596	1.00[ASN][1000 genomes]
rs62124597	1.00[ASN][1000 genomes]
rs62124598	1.00[ASN][1000 genomes]
rs62124599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124600	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124603	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62124604	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715475	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744963	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs73214391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218122	1.00[ASN][1000 genomes]
rs73218124	1.00[ASN][1000 genomes]
rs73218129	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73218135	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs741189	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7565347	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589484	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[ASN][1000 genomes]
rs759220	1.00[ASN][1000 genomes]
rs759221	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9653390	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9808229	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	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20471800-20533800	Strong transcription	Dnd41	blood
2	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
4	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
8	chr2:20522800-20537400	Weak transcription	NHLF	lung
9	chr2:20523000-20536000	Weak transcription	HMEC	breast
10	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:20523200-20533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:20523200-20536000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:20523200-20536000	Weak transcription	Lung	lung
14	chr2:20523600-20537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:20524400-20546400	Weak transcription	NH-A	brain
16	chr2:20526000-20534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:20526400-20534200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:20526400-20534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:20526600-20539400	Weak transcription	HSMM	muscle
21	chr2:20526800-20538200	Weak transcription	HUVEC	blood vessel
22	chr2:20527000-20535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:20527400-20534400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:20527800-20533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:20527800-20534400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:20527800-20534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:20527800-20544800	Weak transcription	Placenta	Placenta
28	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
30	chr2:20528000-20533000	Weak transcription	Gastric	stomach
31	chr2:20528000-20533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:20528000-20533800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:20528000-20534400	Weak transcription	Small Intestine	intestine
34	chr2:20528000-20534600	Weak transcription	Ovary	ovary
35	chr2:20528000-20536000	Weak transcription	Pancreas	Pancrea
36	chr2:20528200-20536000	Weak transcription	Esophagus	oesophagus
37	chr2:20528200-20546600	Weak transcription	Hela-S3	cervix
38	chr2:20528600-20536200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr2:20528600-20546400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:20529000-20533600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:20529200-20536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:20530400-20533200	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:20530400-20534600	Weak transcription	Osteobl	bone
44	chr2:20530600-20536000	Weak transcription	NHDF-Ad	bronchial
45	chr2:20530800-20533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:20530800-20533000	Weak transcription	Fetal Stomach	stomach
47	chr2:20530800-20533000	Weak transcription	Left Ventricle	heart
48	chr2:20530800-20533000	Weak transcription	Psoas Muscle	Psoas
49	chr2:20530800-20533400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:20530800-20533400	Weak transcription	Right Atrium	heart

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