Variant report

Variant	rs565519087
Chromosome Location	chr22:30782803-30782804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr22:30782727-30783777	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr22:30782693-30783436	MCF-7	breast:	n/a	n/a
3	SMC3	chr22:30782783-30784052	SK-N-SH	brain:	n/a	chr22:30783491-30783501 chr22:30783823-30783833 chr22:30783491-30783505 chr22:30783819-30783833 chr22:30783715-30783722 chr22:30783498-30783505
4	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
5	CTCF	chr22:30782323-30784026	SK-N-SH	brain:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
6	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
7	POLR2A	chr22:30782578-30783679	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr22:30782777-30783356	MCF-7	breast:	n/a	n/a
9	CTCF	chr22:30782760-30782910	GM12870	blood:	n/a	n/a
10	POLR2A	chr22:30782602-30783364	Gliobla	brain:	n/a	n/a
11	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
12	POLR2A	chr22:30782759-30783377	ProgFib	skin:	n/a	n/a
13	POLR2A	chr22:30782633-30783348	U87	brain:	n/a	n/a
14	POLR2A	chr22:30782750-30783675	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr22:30782715-30782851	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:30782711-30783348	U87	brain:	n/a	n/a
17	ZBTB7A	chr22:30782702-30783954	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
18	CTCF	chr22:30782800-30782950	GM06990	blood:	n/a	n/a
19	POLR2A	chr22:30782648-30782823	A549	lung:	n/a	n/a
20	POLR2A	chr22:30782704-30783571	HUVEC	blood vessel:	n/a	n/a
21	ZBTB7A	chr22:30782691-30783970	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
22	HCFC1	chr22:30782469-30783847	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr22:30782756-30783952	A549	lung:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
3	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
4	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
5	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
6	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
7	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
8	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000100003	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
4	esv3376959	chr22:30782102-30785000	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3374389	chr22:30782177-30784725	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 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	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
2	chr22:30782000-30783000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:30782000-30783000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr22:30782000-30783000	Flanking Active TSS	Dnd41	blood
5	chr22:30782200-30783000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:30782200-30783000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30782200-30783000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:30782200-30783000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:30782200-30783000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr22:30782200-30783000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr22:30782200-30783600	Enhancers	Fetal Heart	heart
12	chr22:30782200-30783800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr22:30782400-30783000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:30782400-30783000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30782400-30783000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:30782400-30783000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr22:30782400-30783000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:30782400-30783000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:30782400-30783000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:30782400-30783000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:30782400-30783000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:30782400-30783000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr22:30782400-30783000	Flanking Active TSS	Liver	Liver
25	chr22:30782400-30783000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr22:30782400-30783000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr22:30782400-30783000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr22:30782400-30783000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr22:30782400-30783000	Flanking Active TSS	GM12878-XiMat	blood
30	chr22:30782400-30783000	Flanking Active TSS	HMEC	breast
31	chr22:30782400-30783000	Flanking Active TSS	NH-A	brain
32	chr22:30782400-30783200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr22:30782400-30783400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:30782400-30783600	Active TSS	Psoas Muscle	Psoas
35	chr22:30782400-30783800	Enhancers	Primary T cells from cord blood	blood
36	chr22:30782400-30783800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr22:30782600-30783000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:30782600-30783000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:30782600-30783000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr22:30782600-30783000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr22:30782600-30783000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr22:30782600-30783000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr22:30782600-30783000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr22:30782600-30783000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:30782600-30783000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30782600-30783000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr22:30782600-30783000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr22:30782600-30783000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr22:30782600-30783000	Flanking Active TSS	Fetal Brain Male	brain
50	chr22:30782600-30783000	Flanking Active TSS	Fetal Intestine Large	intestine

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