Variant report

Variant	rs138508585
Chromosome Location	chr22:30782689-30782690
allele	G/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	POLR2A	chr22:30782689-30782698	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30782646-30782787	K562	blood:	n/a	n/a
3	POLR2A	chr22:30782656-30782701	MCF-7	breast:	n/a	n/a
4	POLR2A	chr22:30782689-30782733	ProgFib	skin:	n/a	n/a
5	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
6	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
7	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
8	POLR2A	chr22:30782578-30783679	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr22:30782602-30783364	Gliobla	brain:	n/a	n/a
10	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
11	POLR2A	chr22:30782633-30783348	U87	brain:	n/a	n/a
12	CTCF	chr22:30782600-30782750	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr22:30782648-30782823	A549	lung:	n/a	n/a
14	HCFC1	chr22:30782469-30783847	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
2	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
3	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
4	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
5	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
6	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
7	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
8	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
9	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000239282	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000242114	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:126 , 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	chr22:30781800-30782800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:30781800-30782800	Enhancers	Fetal Thymus	thymus
4	chr22:30782000-30782800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:30782000-30782800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:30782000-30782800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:30782000-30782800	Flanking Active TSS	Osteobl	bone
8	chr22:30782000-30783000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:30782000-30783000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr22:30782000-30783000	Flanking Active TSS	Dnd41	blood
11	chr22:30782200-30782800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:30782200-30782800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:30782200-30782800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:30782200-30782800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr22:30782200-30782800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr22:30782200-30782800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:30782200-30782800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr22:30782200-30782800	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr22:30782200-30782800	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr22:30782200-30782800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr22:30782200-30782800	Flanking Active TSS	Fetal Brain Female	brain
22	chr22:30782200-30782800	Enhancers	Gastric	stomach
23	chr22:30782200-30782800	Flanking Active TSS	Lung	lung
24	chr22:30782200-30782800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr22:30782200-30782800	Enhancers	Spleen	Spleen
26	chr22:30782200-30782800	Flanking Active TSS	A549	lung
27	chr22:30782200-30782800	Flanking Active TSS	HSMMtube	muscle
28	chr22:30782200-30782800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr22:30782200-30782800	Flanking Active TSS	NHLF	lung
30	chr22:30782200-30783000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30782200-30783000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:30782200-30783000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:30782200-30783000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr22:30782200-30783000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr22:30782200-30783000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr22:30782200-30783600	Enhancers	Fetal Heart	heart
37	chr22:30782200-30783800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr22:30782400-30782800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr22:30782400-30782800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:30782400-30782800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:30782400-30782800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:30782400-30782800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr22:30782400-30782800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr22:30782400-30782800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr22:30782400-30782800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr22:30782400-30782800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30782400-30782800	Enhancers	Primary B cells from peripheral blood	blood
49	chr22:30782400-30782800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:30782400-30782800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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