Variant report

Variant	rs7284365
Chromosome Location	chr22:30309231-30309232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:
2	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
3	chr22:30308576..30310461-chr22:30376998..30379736,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11552852	0.81[EUR][1000 genomes]
rs1544429	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544430	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1544431	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1544433	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16988120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16988143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16988148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16988244	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16988291	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16988303	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16988304	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17648208	0.83[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2105871	0.89[EUR][1000 genomes]
rs2107674	0.82[AMR][1000 genomes]
rs2349228	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36592	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36608	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs39713	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41278853	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41281623	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs45629133	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4820823	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55645000	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56332559	0.87[AMR][1000 genomes]
rs56392746	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57348516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5752974	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5752977	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5752979	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5763560	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763568	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763582	0.85[EUR][1000 genomes]
rs5763595	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5997539	0.91[EUR][1000 genomes]
rs6006276	0.91[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6519805	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7284951	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7286205	0.82[AMR][1000 genomes]
rs7286441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7287233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs737938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883320	0.87[AMR][1000 genomes]
rs73883344	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883349	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883354	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883355	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883359	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883360	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.83[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr22:30304000-30309800	Weak transcription	Brain Germinal Matrix	brain
7	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
10	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30304600-30309400	Weak transcription	Brain Anterior Caudate	brain
13	chr22:30304600-30310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:30304600-30310000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
17	chr22:30305200-30310400	Weak transcription	Primary B cells from cord blood	blood
18	chr22:30305200-30310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:30305400-30310000	Weak transcription	Hela-S3	cervix
20	chr22:30305400-30310400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr22:30305800-30310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:30306600-30312200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr22:30306800-30310000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:30306800-30310200	Enhancers	Psoas Muscle	Psoas
26	chr22:30307000-30310000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:30307200-30310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr22:30307400-30310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr22:30307400-30310400	Enhancers	Fetal Heart	heart
31	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
33	chr22:30307800-30309400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr22:30307800-30309400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr22:30307800-30310000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:30307800-30311400	Enhancers	A549	lung
37	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
38	chr22:30308000-30309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr22:30308000-30309400	Enhancers	Ovary	ovary
40	chr22:30308000-30309800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr22:30308000-30310000	Enhancers	Left Ventricle	heart
42	chr22:30308000-30310200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30308000-30310400	Enhancers	Fetal Muscle Leg	muscle
44	chr22:30308000-30311600	Enhancers	HSMMtube	muscle
45	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
46	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
47	chr22:30308200-30309400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr22:30308200-30310200	Enhancers	Right Atrium	heart
49	chr22:30308200-30311000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr22:30308200-30311600	Enhancers	Osteobl	bone

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