Variant report

Variant	rs9620984
Chromosome Location	chr22:30816148-30816149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr22:30816050-30822994	IMR90	lung:	n/a	n/a
2	POLR2A	chr22:30816136-30816645	K562	blood:	n/a	n/a
3	POLR2A	chr22:30816141-30816921	U87	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
2	chr22:30812731..30815358-chr22:30815799..30818479,2	MCF-7	breast:
3	chr22:30641395..30644994-chr22:30815782..30819866,5	MCF-7	breast:
4	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:
5	chr22:30805144..30806924-chr22:30814861..30816849,3	K562	blood:
6	chr22:30780386..30782265-chr22:30815840..30818586,2	MCF-7	breast:
7	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268538	TF binding region
ENSG00000273350	TF binding region
RNU6-564P	TF binding region
ENSG00000100003	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000128342	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1005835	0.84[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1010324	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11089442	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap]
rs11089447	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11089448	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11089449	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11703867	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11705639	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12171261	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2072160	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2074731	0.91[CEU][hapmap];0.80[CHB][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2267154	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267155	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267156	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283866	0.81[EUR][1000 genomes]
rs2283870	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283871	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299827	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839998	0.91[CEU][hapmap];0.81[CHB][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs57940170	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5994294	0.91[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5994305	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5994306	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5997637	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997646	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61583714	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71331235	0.82[EUR][1000 genomes]
rs7288366	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7289360	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7290317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8141656	0.91[CEU][hapmap];0.81[CHB][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs9619096	0.91[CEU][hapmap];0.81[CHB][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap]
rs9619098	0.82[EUR][1000 genomes]
rs9619105	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][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:125 , 50 per page) page: 1 2 3

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	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
4	chr22:30797800-30816400	Strong transcription	Dnd41	blood
5	chr22:30799400-30817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:30801400-30816600	Strong transcription	Fetal Stomach	stomach
7	chr22:30802000-30816400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr22:30802200-30816200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:30802200-30817000	Genic enhancers	Liver	Liver
10	chr22:30803200-30817200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr22:30805000-30818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:30805200-30816400	Weak transcription	NHDF-Ad	bronchial
13	chr22:30805800-30816200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:30805800-30816200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30807000-30816200	Strong transcription	Brain Hippocampus Middle	brain
16	chr22:30808400-30817400	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:30809000-30818200	Strong transcription	Fetal Brain Female	brain
18	chr22:30809800-30818400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:30809800-30818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:30810000-30817800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:30810400-30816400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30810600-30817800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:30810800-30816400	Weak transcription	Fetal Heart	heart
24	chr22:30811000-30818000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr22:30811200-30817000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr22:30811400-30816400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:30811400-30816600	Strong transcription	Lung	lung
28	chr22:30811400-30817600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:30811600-30816400	Strong transcription	GM12878-XiMat	blood
30	chr22:30811600-30816600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:30811600-30816800	Genic enhancers	Fetal Intestine Small	intestine
32	chr22:30811600-30816800	Strong transcription	Rectal Smooth Muscle	rectum
33	chr22:30811800-30818200	Strong transcription	Primary T cells from cord blood	blood
34	chr22:30812000-30816800	Strong transcription	Fetal Thymus	thymus
35	chr22:30812000-30817200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr22:30812400-30818200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:30812600-30816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:30812600-30816200	Weak transcription	Hela-S3	cervix
39	chr22:30812600-30817000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:30812600-30817800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:30812600-30818800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:30812800-30816600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:30812800-30817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:30812800-30818000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr22:30812800-30818200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:30812800-30818400	Weak transcription	Fetal Brain Male	brain
47	chr22:30813000-30817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:30813400-30818400	Genic enhancers	HMEC	breast
49	chr22:30813800-30817800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:30813800-30817800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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