Variant report

Variant	rs8092508
Chromosome Location	chr18:29261340-29261341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:29261240-29261390	GM12870	blood:	n/a	n/a
2	CTCF	chr18:29261232-29261422	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr18:29261240-29261390	NHLF	lung:	n/a	n/a
4	CTCF	chr18:29261261-29261435	GM19240	blood:	n/a	n/a
5	CTCF	chr18:29261300-29261450	HCT-116	colon:	n/a	n/a
6	CTCF	chr18:29261053-29261454	MCF-7	breast:	n/a	n/a
7	CTCF	chr18:29261240-29261390	HRE	kidney:	n/a	n/a
8	CTCF	chr18:29261180-29261465	K562	blood:	n/a	n/a
9	CTCF	chr18:29261300-29261450	MCF-7	breast:	n/a	n/a
10	CTCF	chr18:29261280-29261430	GM12865	blood:	n/a	n/a
11	ZNF143	chr18:29261219-29261419	GM12878	blood:	n/a	n/a
12	CTCF	chr18:29261240-29261390	AG04450	lung:	n/a	n/a
13	CTCF	chr18:29261260-29261410	GM12864	blood:	n/a	n/a
14	CTCF	chr18:29261220-29261370	GM12864	blood:	n/a	n/a
15	CTCF	chr18:29261299-29261343	ProgFib	skin:	n/a	n/a
16	CTCF	chr18:29261280-29261430	GM12873	blood:	n/a	n/a
17	CTCF	chr18:29261230-29261451	MCF-7	breast:	n/a	n/a
18	CTCF	chr18:29261280-29261430	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr18:29261187-29261430	K562	blood:	n/a	n/a
20	CTCF	chr18:29261300-29261450	AG10803	skin:	n/a	n/a
21	CTCF	chr18:29261185-29261420	HepG2	liver:	n/a	n/a
22	CTCF	chr18:29261316-29261380	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr18:29261300-29261450	GM12878	blood:	n/a	n/a
24	CTCF	chr18:29261288-29261425	MCF-7	breast:	n/a	n/a
25	CTCF	chr18:29261300-29261450	HAc	cerebellar:	n/a	n/a
26	CTCF	chr18:29261304-29261412	MCF-7	breast:	n/a	n/a
27	CTCF	chr18:29261260-29261410	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr18:29261286-29261369	Medullo	brain:	n/a	n/a
29	CTCF	chr18:29261280-29261430	GM12864	blood:	n/a	n/a
30	CTCF	chr18:29261240-29261390	AG10803	skin:	n/a	n/a
31	CTCF	chr18:29261245-29261433	A549	lung:	n/a	n/a
32	CTCF	chr18:29261240-29261390	RPTEC	kidney:	n/a	n/a
33	CTCF	chr18:29261260-29261410	GM12872	blood:	n/a	n/a
34	SIN3A	chr18:29261235-29261439	H1-hESC	embryonic stem cell:	n/a	chr18:29261347-29261357 chr18:29261239-29261253
35	CTCF	chr18:29261240-29261390	NB4	blood:	n/a	n/a
36	CTCF	chr18:29261260-29261410	GM12875	blood:	n/a	n/a
37	CTCF	chr18:29261260-29261410	GM12868	blood:	n/a	n/a
38	CTCF	chr18:29260990-29261569	A549	lung:	n/a	n/a
39	CTCF	chr18:29261228-29261422	K562	blood:	n/a	n/a
40	CTCF	chr18:29261240-29261390	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr18:29261240-29261390	AG09319	gingival:	n/a	n/a
42	CTCF	chr18:29261320-29261470	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr18:29261240-29261390	GM12873	blood:	n/a	n/a
44	CTCF	chr18:29261271-29261421	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr18:29261220-29261424	HUVEC	blood vessel:	n/a	n/a
46	RCOR1	chr18:29261244-29261743	GM12878	blood:	n/a	n/a
47	CTCF	chr18:29261162-29261509	K562	blood:	n/a	n/a
48	CTCF	chr18:29261240-29261390	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr18:29261220-29261370	GM12872	blood:	n/a	n/a
50	CTCF	chr18:29261300-29261450	GM12875	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29251332..29253649-chr18:29260084..29261711,2	K562	blood:
2	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259985	TF binding region

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

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

rs_ID	r²[population]
rs1551000	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1614197	0.88[ASN][1000 genomes]
rs1979105	0.80[EUR][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	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:29257200-29261600	Flanking Active TSS	GM12878-XiMat	blood
5	chr18:29257800-29261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:29257800-29261800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
10	chr18:29258200-29261600	Enhancers	NHEK	skin
11	chr18:29258200-29262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
14	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
15	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
17	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
18	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
19	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
22	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
23	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:29259200-29261600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr18:29259400-29261800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:29259600-29261600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:29259600-29261600	Enhancers	HMEC	breast
29	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:29259800-29261400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr18:29259800-29261800	Enhancers	HUVEC	blood vessel
33	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
36	chr18:29260000-29261400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:29260000-29262400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:29260000-29263800	Weak transcription	Osteobl	bone
39	chr18:29260200-29261800	Enhancers	Hela-S3	cervix
40	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
42	chr18:29260400-29261600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:29260400-29263000	Enhancers	Dnd41	blood
44	chr18:29260400-29263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:29260400-29263400	Weak transcription	NH-A	brain
46	chr18:29260400-29263800	Weak transcription	Liver	Liver
47	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:29260600-29261600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:29260600-29262000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:29260600-29262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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