Variant report

Variant	rs5997618
Chromosome Location	chr22:30751888-30751889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:30751792-30753683	SK-N-SH	brain:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
2	MTA3	chr22:30751792-30753550	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30751868-30753332	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:30751852-30753266	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr22:30751859-30753121	GM12878	blood:	n/a	n/a
6	CHD1	chr22:30751766-30753648	IMR90	lung:	n/a	n/a
7	POLR2A	chr22:30751882-30753463	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
2	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
5	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
6	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
7	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
8	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
9	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
10	chr22:30750563..30752352-chr22:30759520..30761812,2	MCF-7	breast:
11	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
12	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
13	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
14	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
15	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
16	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12157762	0.89[AFR][1000 genomes]
rs12159316	1.00[AFR][1000 genomes]
rs5997638	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr22:30748800-30752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30749000-30752000	Weak transcription	Aorta	Aorta
3	chr22:30749200-30752000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30750200-30752000	Enhancers	Gastric	stomach
5	chr22:30750200-30752000	Enhancers	Lung	lung
6	chr22:30750200-30752000	Enhancers	Pancreas	Pancrea
7	chr22:30750200-30752000	Enhancers	Small Intestine	intestine
8	chr22:30750600-30752200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30750600-30752600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:30750800-30752000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr22:30750800-30752000	Enhancers	Spleen	Spleen
13	chr22:30750800-30752200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr22:30750800-30752400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr22:30750800-30752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr22:30751000-30752000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr22:30751000-30752000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr22:30751000-30752000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr22:30751000-30752000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr22:30751000-30752400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr22:30751000-30752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:30751000-30752400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:30751200-30752000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:30751200-30752000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr22:30751200-30752000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr22:30751200-30752000	Flanking Active TSS	Hela-S3	cervix
27	chr22:30751200-30752000	Flanking Active TSS	NHLF	lung
28	chr22:30751200-30752200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:30751200-30752200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:30751200-30752200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr22:30751200-30752200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:30751200-30752200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:30751200-30752200	Flanking Active TSS	Fetal Heart	heart
34	chr22:30751200-30752200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:30751200-30752200	Flanking Active TSS	NHEK	skin
36	chr22:30751200-30752200	Flanking Active TSS	Osteobl	bone
37	chr22:30751200-30752400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30751200-30752400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr22:30751200-30752400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:30751200-30752400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr22:30751200-30752400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr22:30751200-30752600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr22:30751200-30752600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:30751200-30752600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr22:30751200-30752800	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr22:30751200-30753600	Active TSS	Ovary	ovary
47	chr22:30751200-30753600	Active TSS	A549	lung
48	chr22:30751400-30752000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:30751400-30752000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30751400-30752000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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