Variant report

Variant	rs7287777
Chromosome Location	chr22:30233608-30233609
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr22:30233502-30233987	K562	blood:	n/a	n/a
2	REST	chr22:30233464-30234918	H1-neurons	neurons:	n/a	chr22:30233992-30234005
3	HCFC1	chr22:30233524-30234884	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:30233477-30234945	HepG2	liver:	n/a	n/a
5	GABPA	chr22:30233545-30234840	MCF-7	breast:	n/a	chr22:30234301-30234310
6	MXI1	chr22:30233342-30235412	SK-N-SH	brain:	n/a	n/a
7	SIN3A	chr22:30233576-30234632	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:30233570-30234701	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:30233501-30234709	MCF10A-Er-Src	breast:	n/a	n/a
10	KAP1	chr22:30233525-30234721	K562	blood:	n/a	n/a
11	SIN3A	chr22:30233550-30234615	GM12878	blood:	n/a	n/a
12	MTA3	chr22:30233572-30234196	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30216228..30218392-chr22:30231989..30234163,2	K562	blood:
2	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
3	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
4	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
5	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
6	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
7	chr22:30232501..30234053-chr22:30238394..30240454,2	K562	blood:
8	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
9	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
10	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:
11	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
12	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1071962	0.92[ASN][1000 genomes]
rs12158466	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12159277	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12627866	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12628028	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12628234	0.88[EUR][1000 genomes]
rs12628545	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs14115	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16987142	0.89[EUR][1000 genomes]
rs16988049	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17711461	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17711508	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018808	0.92[EUR][1000 genomes]
rs2240364	0.87[EUR][1000 genomes]
rs2240365	0.89[EUR][1000 genomes]
rs2240366	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs249399	0.85[ASN][1000 genomes]
rs249402	0.83[AFR][1000 genomes]
rs28730892	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57122143	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58015017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59394320	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997518	0.82[EUR][1000 genomes]
rs5997519	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs5997520	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs5997524	0.92[EUR][1000 genomes]
rs6006241	0.82[EUR][1000 genomes]
rs6006242	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6006247	0.92[EUR][1000 genomes]
rs6006249	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6006250	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6006262	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60805530	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61616383	0.89[EUR][1000 genomes]
rs7285660	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7285800	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7289250	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73392899	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73394814	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394831	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394838	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737728	0.89[EUR][1000 genomes]
rs740116	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8138165	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30232000-30234600	Active TSS	GM12878-XiMat	blood
2	chr22:30232800-30233800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30232800-30233800	Flanking Active TSS	Dnd41	blood
4	chr22:30233000-30233800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:30233000-30233800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:30233000-30233800	Flanking Active TSS	Colonic Mucosa	Colon
7	chr22:30233000-30233800	Flanking Active TSS	Right Ventricle	heart
8	chr22:30233000-30233800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr22:30233000-30233800	Enhancers	Spleen	Spleen
10	chr22:30233000-30234000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr22:30233000-30234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30233000-30234000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr22:30233000-30234400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr22:30233000-30234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30233000-30234800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr22:30233000-30234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:30233200-30233800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:30233200-30233800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:30233200-30233800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr22:30233200-30234000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr22:30233200-30234000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:30233200-30234000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr22:30233200-30234000	Flanking Active TSS	Fetal Brain Female	brain
24	chr22:30233200-30234000	Flanking Active TSS	NH-A	brain
25	chr22:30233200-30234400	Active TSS	HSMM	muscle
26	chr22:30233200-30234600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr22:30233200-30234600	Active TSS	Stomach Mucosa	stomach
28	chr22:30233200-30234600	Active TSS	A549	lung
29	chr22:30233200-30234600	Active TSS	NHLF	lung
30	chr22:30233200-30234800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:30233400-30233800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:30233400-30233800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:30233400-30233800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:30233400-30233800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:30233400-30233800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr22:30233400-30233800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr22:30233400-30233800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr22:30233400-30233800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr22:30233400-30233800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr22:30233400-30233800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr22:30233400-30233800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:30233400-30233800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr22:30233400-30233800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:30233400-30233800	Flanking Active TSS	Liver	Liver
45	chr22:30233400-30233800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr22:30233400-30233800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr22:30233400-30233800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr22:30233400-30233800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:30233400-30233800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr22:30233400-30233800	Flanking Active TSS	Colon Smooth Muscle	Colon

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