Variant report

Variant	rs73396863
Chromosome Location	chr22:30309086-30309087
allele	A/T
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:
4	chr22:30277897..30280164-chr22:30306298..30309228,2	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs2051858	1.00[AFR][1000 genomes]
rs2051859	1.00[AFR][1000 genomes]
rs2107672	0.93[AFR][1000 genomes]
rs2107673	1.00[AFR][1000 genomes]
rs2158535	1.00[AFR][1000 genomes]
rs56727193	1.00[AMR][1000 genomes]
rs56822704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56978667	1.00[AMR][1000 genomes]
rs57349783	1.00[AFR][1000 genomes]
rs58564057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967191	1.00[AMR][1000 genomes]
rs60017483	1.00[AMR][1000 genomes]
rs60022678	1.00[AMR][1000 genomes]
rs6006286	0.88[AFR][1000 genomes]
rs60093195	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098050	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60573683	0.89[AFR][1000 genomes]
rs60751132	0.83[AFR][1000 genomes]
rs7290116	1.00[AMR][1000 genomes]
rs7291683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394881	0.89[AFR][1000 genomes]
rs73394884	0.89[AFR][1000 genomes]
rs73394885	0.89[AFR][1000 genomes]
rs73394887	0.80[AFR][1000 genomes]
rs73394892	0.84[AFR][1000 genomes]
rs73394897	0.93[AFR][1000 genomes]
rs73396810	0.93[AFR][1000 genomes]
rs73396811	0.93[AFR][1000 genomes]
rs73396818	1.00[AFR][1000 genomes]
rs73396822	1.00[AFR][1000 genomes]
rs73396823	1.00[AFR][1000 genomes]
rs73396826	1.00[AFR][1000 genomes]
rs73396827	1.00[AFR][1000 genomes]
rs73396828	1.00[AFR][1000 genomes]
rs73396830	1.00[AFR][1000 genomes]
rs73396831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396837	1.00[AMR][1000 genomes]
rs73396841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396856	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396883	1.00[AMR][1000 genomes]
rs73396885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396886	1.00[AMR][1000 genomes]
rs73396894	1.00[AMR][1000 genomes]
rs73396896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398630	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398645	1.00[AMR][1000 genomes]
rs73398647	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398650	1.00[AMR][1000 genomes]
rs73398653	1.00[AMR][1000 genomes]
rs73398654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398662	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398671	1.00[AMR][1000 genomes]
rs73398683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398696	1.00[AMR][1000 genomes]
rs73398701	1.00[AMR][1000 genomes]
rs73400604	1.00[AMR][1000 genomes]
rs73400618	1.00[AMR][1000 genomes]
rs73400625	1.00[AMR][1000 genomes]
rs73400627	1.00[AMR][1000 genomes]
rs73400629	1.00[AMR][1000 genomes]
rs73400637	1.00[AMR][1000 genomes]
rs879447	1.00[AMR][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:109 , 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	chr22:30304400-30309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
11	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:30304600-30309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:30304600-30309400	Weak transcription	Brain Anterior Caudate	brain
15	chr22:30304600-30310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:30304600-30310000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
19	chr22:30305200-30310400	Weak transcription	Primary B cells from cord blood	blood
20	chr22:30305200-30310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:30305400-30310000	Weak transcription	Hela-S3	cervix
22	chr22:30305400-30310400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr22:30305800-30310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:30306600-30312200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr22:30306800-30310000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:30306800-30310200	Enhancers	Psoas Muscle	Psoas
28	chr22:30307000-30310000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:30307200-30309200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:30307200-30309200	Enhancers	Stomach Mucosa	stomach
32	chr22:30307200-30309200	Enhancers	HepG2	liver
33	chr22:30307200-30310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:30307400-30310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr22:30307400-30310400	Enhancers	Fetal Heart	heart
36	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
38	chr22:30307800-30309400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr22:30307800-30309400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr22:30307800-30310000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:30307800-30311400	Enhancers	A549	lung
42	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
43	chr22:30308000-30309200	Enhancers	Fetal Intestine Small	intestine
44	chr22:30308000-30309200	Enhancers	Pancreas	Pancrea
45	chr22:30308000-30309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr22:30308000-30309400	Enhancers	Ovary	ovary
47	chr22:30308000-30309800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr22:30308000-30310000	Enhancers	Left Ventricle	heart
49	chr22:30308000-30310200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:30308000-30310400	Enhancers	Fetal Muscle Leg	muscle

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