Variant report

Variant	rs12169042
Chromosome Location	chr22:30385381-30385382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30096098..30098972-chr22:30384609..30387065,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs12166580	1.00[AMR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167519	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12169015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41479445	1.00[AMR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes]
rs7290848	1.00[AMR][1000 genomes]
rs9620927	0.87[AFR][1000 genomes]
rs9620930	1.00[AMR][1000 genomes]
rs9620945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620947	1.00[AMR][1000 genomes]
rs9625869	1.00[AMR][1000 genomes]
rs9625890	1.00[AMR][1000 genomes]
rs9625907	1.00[AMR][1000 genomes]
rs9625929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
3	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:30351200-30387400	Weak transcription	Ovary	ovary
5	chr22:30352800-30388600	Weak transcription	HepG2	liver
6	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
7	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
8	chr22:30358800-30387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:30366400-30387400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30366600-30390800	Weak transcription	Gastric	stomach
12	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr22:30368400-30387400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:30369400-30388400	Weak transcription	NH-A	brain
16	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
17	chr22:30370200-30388400	Weak transcription	NHLF	lung
18	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
19	chr22:30370800-30387400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
21	chr22:30371800-30385800	Weak transcription	Lung	lung
22	chr22:30371800-30386600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:30373400-30388600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:30373600-30388600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:30375200-30386000	Weak transcription	Thymus	Thymus
28	chr22:30375200-30389800	Weak transcription	K562	blood
29	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
31	chr22:30375800-30387400	Weak transcription	Spleen	Spleen
32	chr22:30375800-30388400	Weak transcription	A549	lung
33	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
34	chr22:30376000-30387200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:30376000-30387400	Weak transcription	Brain Germinal Matrix	brain
36	chr22:30376000-30387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:30376000-30387400	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:30376000-30387400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:30376200-30388200	Weak transcription	HMEC	breast
40	chr22:30376200-30389800	Weak transcription	Hela-S3	cervix
41	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
42	chr22:30376400-30386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:30376600-30386000	Weak transcription	Left Ventricle	heart
44	chr22:30376600-30387400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:30376600-30387400	Weak transcription	Psoas Muscle	Psoas
46	chr22:30376800-30387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr22:30377000-30387400	Weak transcription	Fetal Thymus	thymus
48	chr22:30377000-30389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr22:30377200-30385600	Weak transcription	Dnd41	blood
50	chr22:30377200-30385800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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