Variant report

Variant	rs7278727
Chromosome Location	chr21:17221122-17221123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17220358..17222293-chr21:17224213..17226942,2	MCF-7	breast:
2	chr21:17211111..17214021-chr21:17219492..17221299,2	K562	blood:
3	chr21:17220840..17222418-chr21:17227807..17229346,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1022457	0.87[EUR][1000 genomes]
rs10482875	0.83[CEU][hapmap]
rs10482876	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs11910884	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1543299	0.91[CEU][hapmap]
rs17241395	0.89[JPT][hapmap]
rs17241416	1.00[CEU][hapmap]
rs17241423	1.00[CEU][hapmap]
rs17241430	1.00[CEU][hapmap]
rs17241444	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17241460	0.93[EUR][1000 genomes]
rs17241481	0.93[EUR][1000 genomes]
rs17275511	0.91[EUR][1000 genomes]
rs17307120	0.83[CEU][hapmap]
rs17307176	1.00[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs17307190	0.93[EUR][1000 genomes]
rs17307197	0.93[EUR][1000 genomes]
rs17307204	0.93[EUR][1000 genomes]
rs2026853	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2205585	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2205588	0.93[EUR][1000 genomes]
rs2205589	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2223176	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242676	1.00[CEU][hapmap]
rs2242680	0.93[EUR][1000 genomes]
rs2242681	0.93[EUR][1000 genomes]
rs2245574	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2404000	0.93[EUR][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap]
rs2823462	0.83[CEU][hapmap]
rs2823463	0.83[CEU][hapmap]
rs2823471	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2823472	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[YRI][hapmap]
rs2823477	0.83[YRI][hapmap]
rs2823478	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2823481	0.89[JPT][hapmap]
rs2823482	0.83[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap]
rs2823484	0.89[JPT][hapmap]
rs2823489	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[YRI][hapmap]
rs2823491	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2823493	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823495	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823496	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823497	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823498	0.91[EUR][1000 genomes]
rs2823499	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823502	0.90[AFR][1000 genomes]
rs2823503	0.90[AFR][1000 genomes]
rs2823504	0.91[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2823505	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823510	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2823511	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2823513	0.84[EUR][1000 genomes]
rs2823517	0.82[AFR][1000 genomes]
rs28469763	0.84[AFR][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs392203	0.86[AFR][1000 genomes]
rs59084861	0.93[EUR][1000 genomes]
rs6517609	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[YRI][hapmap]
rs6517613	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs6517648	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.90[YRI][hapmap]
rs6517652	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap]
rs6517675	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7277807	0.83[CEU][hapmap]
rs7278428	0.83[CEU][hapmap]
rs7281511	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7283707	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.86[YRI][hapmap]
rs7283764	0.83[CEU][hapmap]
rs73346766	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73346769	0.90[EUR][1000 genomes]
rs8127158	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs8127570	0.84[EUR][1000 genomes]
rs8128073	0.91[EUR][1000 genomes]
rs8128766	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133079	0.93[EUR][1000 genomes]
rs8134327	0.94[ASW][hapmap];0.91[CEU][hapmap];0.90[YRI][hapmap]
rs9974210	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9976815	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9977000	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9977069	0.98[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9981766	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9983248	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9983385	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9983458	0.81[ASN][1000 genomes]
rs9983858	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
5	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17188400-17247200	Weak transcription	Ovary	ovary
9	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
10	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:17190200-17245400	Weak transcription	Lung	lung
13	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
14	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
15	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
17	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
18	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
24	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
25	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
26	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
27	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:17204600-17247800	Weak transcription	HepG2	liver
30	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:17207600-17229600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:17210400-17228600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
34	chr21:17210600-17239000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
38	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
39	chr21:17211600-17227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:17213600-17227800	Weak transcription	GM12878-XiMat	blood
41	chr21:17214200-17222600	Weak transcription	NHLF	lung
42	chr21:17214200-17245400	Weak transcription	Gastric	stomach
43	chr21:17214600-17221600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr21:17214600-17237800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr21:17214800-17221400	Weak transcription	NHDF-Ad	bronchial
46	chr21:17215000-17226600	Weak transcription	Primary T cells from cord blood	blood
47	chr21:17215000-17236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:17215000-17240600	Weak transcription	Fetal Muscle Leg	muscle
49	chr21:17215000-17240600	Weak transcription	HSMMtube	muscle
50	chr21:17215000-17245200	Weak transcription	Fetal Kidney	kidney

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