Variant report

Variant	rs2107674
Chromosome Location	chr22:30309886-30309887
allele	G/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:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11552852	0.89[AMR][1000 genomes]
rs1544429	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1544431	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1544433	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16988120	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16988143	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16988148	0.82[AMR][1000 genomes]
rs16988149	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36579	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36588	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36589	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36593	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36597	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36602	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36603	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36608	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs39713	0.80[EUR][1000 genomes]
rs4820823	0.82[EUR][1000 genomes]
rs55645000	0.82[EUR][1000 genomes]
rs57348516	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5752979	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763595	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7284365	0.82[AMR][1000 genomes]
rs7284951	0.82[EUR][1000 genomes]
rs7286441	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7287233	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs737938	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73883344	0.82[AMR][1000 genomes];0.82[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:106 , 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	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
9	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:30304600-30310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:30304600-30310000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:30305200-30310400	Weak transcription	Primary B cells from cord blood	blood
16	chr22:30305200-30310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30305400-30310000	Weak transcription	Hela-S3	cervix
18	chr22:30305400-30310400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr22:30305800-30310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:30306600-30312200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr22:30306800-30310000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr22:30306800-30310200	Enhancers	Psoas Muscle	Psoas
24	chr22:30307000-30310000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:30307200-30310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30307400-30310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr22:30307400-30310400	Enhancers	Fetal Heart	heart
29	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
31	chr22:30307800-30310000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30307800-30311400	Enhancers	A549	lung
33	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
34	chr22:30308000-30310000	Enhancers	Left Ventricle	heart
35	chr22:30308000-30310200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30308000-30310400	Enhancers	Fetal Muscle Leg	muscle
37	chr22:30308000-30311600	Enhancers	HSMMtube	muscle
38	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
39	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
40	chr22:30308200-30310200	Enhancers	Right Atrium	heart
41	chr22:30308200-30311000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr22:30308200-30311600	Enhancers	Osteobl	bone
43	chr22:30308200-30312200	Enhancers	NHLF	lung
44	chr22:30308200-30313400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:30308400-30310000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:30308400-30310200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:30308400-30310200	Enhancers	Aorta	Aorta
49	chr22:30308400-30311000	Enhancers	Fetal Lung	lung
50	chr22:30308400-30311400	Enhancers	Adipose Nuclei	Adipose

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