Variant report

Variant	rs2018514
Chromosome Location	chr22:30797590-30797591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30791627..30794347-chr22:30796334..30798708,2	MCF-7	breast:
3	chr22:30796427..30798647-chr22:30816432..30821056,4	K562	blood:
4	chr22:30790188..30791872-chr22:30797485..30799463,2	K562	blood:
5	chr22:30791631..30793562-chr22:30796182..30798580,3	K562	blood:
6	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:

Variant related genes	Relation type
ENSG00000099999	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000268538	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1061660	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12106618	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16988620	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2072157	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072158	0.91[AFR][1000 genomes]
rs2072159	0.90[AFR][1000 genomes]
rs2074651	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283868	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28523826	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4820010	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749090	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753109	0.82[AMR][1000 genomes]
rs5753116	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753117	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997628	0.82[AMR][1000 genomes]
rs5997629	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997641	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7292744	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73390209	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs757660	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs757870	0.82[AMR][1000 genomes]
rs8138401	0.82[AMR][1000 genomes]
rs887098	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794200-30797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:30794200-30797800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:30794400-30802200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:30794600-30798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30794600-30798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:30794600-30802200	Weak transcription	Aorta	Aorta
10	chr22:30794600-30803200	Weak transcription	Fetal Brain Male	brain
11	chr22:30794600-30803200	Weak transcription	Lung	lung
12	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
13	chr22:30794800-30797800	Weak transcription	A549	lung
14	chr22:30794800-30798000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:30794800-30802800	Weak transcription	Hela-S3	cervix
16	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
19	chr22:30795000-30802600	Weak transcription	Fetal Lung	lung
20	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:30795200-30797800	Weak transcription	Brain Angular Gyrus	brain
23	chr22:30795200-30797800	Weak transcription	Fetal Intestine Large	intestine
24	chr22:30795200-30797800	Weak transcription	Ovary	ovary
25	chr22:30795200-30797800	Weak transcription	Stomach Mucosa	stomach
26	chr22:30795200-30797800	Weak transcription	Osteobl	bone
27	chr22:30795200-30798000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:30795200-30798000	Weak transcription	K562	blood
29	chr22:30795200-30798200	Weak transcription	HUVEC	blood vessel
30	chr22:30795200-30799200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:30795200-30799200	Strong transcription	Fetal Intestine Small	intestine
32	chr22:30795200-30799400	Weak transcription	Thymus	Thymus
33	chr22:30795200-30801200	Weak transcription	Gastric	stomach
34	chr22:30795200-30801400	Weak transcription	Primary T cells from cord blood	blood
35	chr22:30795200-30801800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr22:30795200-30802200	Weak transcription	Fetal Brain Female	brain
37	chr22:30795200-30803000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:30795200-30804600	Weak transcription	NHDF-Ad	bronchial
39	chr22:30795200-30804800	Weak transcription	Pancreas	Pancrea
40	chr22:30795200-30807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr22:30795200-30809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr22:30795200-30810200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:30795200-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:30795200-30814400	Weak transcription	Small Intestine	intestine
45	chr22:30795400-30797800	Weak transcription	NH-A	brain
46	chr22:30795400-30802200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr22:30795400-30802400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr22:30795400-30803200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:30795400-30812000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:30795800-30802200	Weak transcription	Brain Germinal Matrix	brain

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