Variant report

Variant	rs9625833
Chromosome Location	chr22:29976952-29976953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
2	chr22:29947295..29951735-chr22:29976015..29980297,4	K562	blood:
3	chr22:29663275..29666008-chr22:29976454..29978804,2	K562	blood:
4	chr22:29951234..29953501-chr22:29974521..29977004,2	MCF-7	breast:
5	chr22:29948374..29951089-chr22:29975785..29978624,4	MCF-7	breast:
6	chr22:29782601..29785697-chr22:29975164..29978533,5	MCF-7	breast:
7	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:
8	chr22:29948193..29950224-chr22:29975940..29978547,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100280	Chromatin interaction
ENSG00000186575	Chromatin interaction
ENSG00000100296	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6006202	1.00[AMR][1000 genomes]
rs60286359	1.00[AMR][1000 genomes]
rs73390916	1.00[AMR][1000 genomes]
rs73390933	1.00[AMR][1000 genomes]
rs73390954	0.83[AMR][1000 genomes]
rs8142879	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv521852	chr22:29974831-29983138	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29975800-29977800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr22:29976000-29977400	Active TSS	NHLF	lung
3	chr22:29976000-29977800	Active TSS	Primary T cells from cord blood	blood
4	chr22:29976000-29977800	Active TSS	Fetal Kidney	kidney
5	chr22:29976200-29977000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr22:29976200-29977000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr22:29976200-29977400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr22:29976200-29977400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:29976200-29977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29976200-29977600	Active TSS	K562	blood
11	chr22:29976200-29977800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:29976200-29977800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:29976200-29978000	Active TSS	Rectal Smooth Muscle	rectum
14	chr22:29976400-29977000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr22:29976400-29977000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr22:29976400-29977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29976400-29977000	Flanking Active TSS	Pancreas	Pancrea
18	chr22:29976400-29977000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr22:29976400-29977200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29976400-29977400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:29976400-29977400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:29976400-29977400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29976400-29977400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr22:29976400-29977400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:29976400-29977400	Active TSS	HSMMtube	muscle
26	chr22:29976400-29977600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29976400-29977600	Active TSS	Fetal Lung	lung
28	chr22:29976400-29977800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr22:29976400-29977800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr22:29976400-29977800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr22:29976400-29977800	Active TSS	Brain Anterior Caudate	brain
32	chr22:29976400-29977800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr22:29976600-29977000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:29976600-29977000	Flanking Active TSS	Right Ventricle	heart
35	chr22:29976600-29977000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr22:29976600-29977200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:29976600-29977200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29976600-29977200	Transcr. at gene 5' and 3'	Right Atrium	heart
39	chr22:29976600-29977200	Active TSS	Thymus	Thymus
40	chr22:29976600-29977400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr22:29976600-29977400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr22:29976600-29977400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:29976600-29977400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:29976600-29977400	Active TSS	Aorta	Aorta
45	chr22:29976600-29977400	Active TSS	Fetal Brain Male	brain
46	chr22:29976600-29977400	Active TSS	Ovary	ovary
47	chr22:29976600-29977400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr22:29976600-29977400	Active TSS	Psoas Muscle	Psoas
49	chr22:29976600-29977400	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr22:29976600-29977400	Active TSS	Stomach Mucosa	stomach

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