Variant report

Variant	rs10153828
Chromosome Location	chr2:20529948-20529949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:20529913-20530024	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20520628..20522961-chr2:20529239..20532212,2	K562	blood:
2	chr2:20527750..20530139-chr2:20537656..20539176,2	K562	blood:
3	chr2:20528511..20530540-chr2:20530679..20532398,2	K562	blood:

Variant related genes	Relation type
PUM2	TF binding region

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

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

rs_ID	r²[population]
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[MKK][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[MKK][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]
rs13426989	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]
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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
2	chr2:20471800-20533800	Strong transcription	Dnd41	blood
3	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
5	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:20517800-20530000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:20518200-20530200	Weak transcription	Spleen	Spleen
11	chr2:20518400-20530400	Weak transcription	Psoas Muscle	Psoas
12	chr2:20518600-20530200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:20519200-20530200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
15	chr2:20522600-20530400	Weak transcription	Left Ventricle	heart
16	chr2:20522600-20530600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:20522600-20532400	Weak transcription	Colonic Mucosa	Colon
18	chr2:20522800-20530600	Weak transcription	Fetal Brain Male	brain
19	chr2:20522800-20530800	Weak transcription	Fetal Heart	heart
20	chr2:20522800-20537400	Weak transcription	NHLF	lung
21	chr2:20523000-20530400	Weak transcription	Thymus	Thymus
22	chr2:20523000-20536000	Weak transcription	HMEC	breast
23	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:20523200-20533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:20523200-20536000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20523200-20536000	Weak transcription	Lung	lung
27	chr2:20523600-20537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:20524400-20546400	Weak transcription	NH-A	brain
29	chr2:20525000-20530000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:20525200-20530000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:20525200-20530600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:20525200-20530800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:20526000-20530000	Weak transcription	NHDF-Ad	bronchial
34	chr2:20526000-20530400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:20526000-20534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:20526200-20530000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:20526200-20530200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:20526400-20530400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:20526400-20532800	Weak transcription	K562	blood
41	chr2:20526400-20534200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:20526400-20534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:20526600-20530000	Weak transcription	Osteobl	bone
44	chr2:20526600-20530400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:20526600-20539400	Weak transcription	HSMM	muscle
46	chr2:20526800-20530600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:20526800-20538200	Weak transcription	HUVEC	blood vessel
48	chr2:20527000-20530200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:20527000-20535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:20527200-20530400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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