Variant report

Variant	rs10193751
Chromosome Location	chr2:20538967-20538968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20527750..20530139-chr2:20537656..20539176,2	K562	blood:
2	chr2:20531227..20533989-chr2:20538784..20541462,3	K562	blood:
3	chr2:20537310..20539002-chr2:20549074..20550758,2	K562	blood:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10153828	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]
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]
rs10168575	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10170538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10171861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172088	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10173098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176257	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs10178561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10179429	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]
rs10182156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10182834	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10184976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189781	0.81[EUR][1000 genomes]
rs10195153	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap]
rs10195817	0.81[EUR][1000 genomes]
rs10197941	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204489	0.87[EUR][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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390701	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391140	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13398963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409830	0.87[EUR][1000 genomes]
rs13412971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421653	1.00[CEU][hapmap]
rs13425933	1.00[CEU][hapmap]
rs13426989	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]
rs56337814	0.89[AMR][1000 genomes]
rs60984167	0.89[AMR][1000 genomes]
rs62123438	0.81[EUR][1000 genomes]
rs62123439	0.81[EUR][1000 genomes]
rs62123441	0.87[EUR][1000 genomes]
rs62123443	0.87[EUR][1000 genomes]
rs62123444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123450	1.00[AMR][1000 genomes];1.00[EUR][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]
rs62123454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62123458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124600	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62124601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62124603	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62124604	0.91[EUR][1000 genomes]
rs6715475	0.87[EUR][1000 genomes]
rs6744963	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs73214391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214393	1.00[EUR][1000 genomes]
rs73216207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73216236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218129	0.89[AMR][1000 genomes]
rs73218135	0.89[AMR][1000 genomes]
rs741189	1.00[CEU][hapmap]
rs7565347	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[EUR][1000 genomes]
rs7589484	1.00[CEU][hapmap];0.88[GIH][hapmap]
rs759221	1.00[CEU][hapmap]
rs9653390	1.00[CEU][hapmap]

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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:20524400-20546400	Weak transcription	NH-A	brain
3	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20526600-20539400	Weak transcription	HSMM	muscle
5	chr2:20527800-20544800	Weak transcription	Placenta	Placenta
6	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
8	chr2:20528200-20546600	Weak transcription	Hela-S3	cervix
9	chr2:20528600-20546400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:20530800-20540000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:20530800-20546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:20531000-20539000	Weak transcription	Fetal Brain Female	brain
13	chr2:20531000-20544600	Weak transcription	Fetal Brain Male	brain
14	chr2:20531000-20549200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:20531200-20539000	Weak transcription	Brain Germinal Matrix	brain
16	chr2:20531200-20546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20531400-20539400	Weak transcription	Fetal Intestine Large	intestine
18	chr2:20531400-20546400	Weak transcription	Fetal Kidney	kidney
19	chr2:20531400-20547800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:20531800-20547400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:20532000-20539000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:20532000-20542200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:20532000-20547400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:20532400-20542400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:20532400-20545400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:20533000-20541800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:20533400-20543800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:20533600-20539600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:20533800-20539400	Enhancers	Primary B cells from cord blood	blood
30	chr2:20533800-20540000	Weak transcription	Dnd41	blood
31	chr2:20533800-20540200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:20533800-20540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:20533800-20545200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:20533800-20549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:20534200-20539400	Enhancers	Liver	Liver
36	chr2:20534200-20542000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:20534400-20542000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:20534600-20539200	Enhancers	A549	lung
39	chr2:20534600-20539200	Enhancers	HepG2	liver
40	chr2:20534600-20540200	Enhancers	Fetal Heart	heart
41	chr2:20534600-20540200	Weak transcription	K562	blood
42	chr2:20534600-20542200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:20534800-20540000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:20534800-20547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:20535000-20540200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:20535000-20545600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:20535000-20547400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:20535200-20539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:20535200-20546600	Weak transcription	NHEK	skin
50	chr2:20535400-20540200	Enhancers	Primary T cells from cord blood	blood

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