Variant report

Variant	rs2668770
Chromosome Location	chr18:44777881-44777882
allele	C/G
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	chr18:44777760-44778306	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr18:44777653-44778236	H1-hESC	embryonic stem cell:	n/a	chr18:44778126-44778136
3	CREB1	chr18:44777788-44778315	H1-hESC	embryonic stem cell:	n/a	chr18:44778071-44778084
4	ATF2	chr18:44777843-44778295	H1-hESC	embryonic stem cell:	n/a	chr18:44778070-44778084 chr18:44778072-44778083
5	CTCF	chr18:44777760-44777910	WERI-Rb-1	eye:	n/a	n/a
6	JUND	chr18:44777671-44778502	SK-N-SH	brain:	n/a	chr18:44778073-44778082 chr18:44778400-44778410 chr18:44778400-44778410 chr18:44778399-44778411 chr18:44778400-44778410 chr18:44777901-44777915 chr18:44778401-44778409 chr18:44778400-44778410
7	SIN3AK20	chr18:44777788-44778203	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr18:44776721-44778337	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr18:44777727-44778339	H1-hESC	embryonic stem cell:	n/a	chr18:44778071-44778084
10	E2F6	chr18:44777550-44778285	H1-hESC	embryonic stem cell:	n/a	chr18:44778072-44778081 chr18:44778074-44778083
11	E2F6	chr18:44777637-44778315	H1-hESC	embryonic stem cell:	n/a	chr18:44778072-44778081 chr18:44778074-44778083
12	POLR2A	chr18:44777558-44778740	H1-neurons	neurons:	n/a	n/a
13	ATF2	chr18:44777730-44778344	H1-hESC	embryonic stem cell:	n/a	chr18:44778070-44778084 chr18:44778072-44778083
14	MXI1	chr18:44777848-44778204	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr18:44777831-44778413	H1-hESC	embryonic stem cell:	n/a	chr18:44778073-44778082 chr18:44778400-44778410 chr18:44778400-44778410 chr18:44778399-44778411 chr18:44778400-44778410 chr18:44777901-44777915 chr18:44778401-44778409 chr18:44778400-44778410
16	TBP	chr18:44777757-44777903	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr18:44777625-44778343	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr18:44777520-44779981	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44774382..44776213-chr18:44776745..44778357,2	K562	blood:

Variant related genes	Relation type
SKOR2	TF binding region
ENSG00000215474	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11082567	0.85[ASN][1000 genomes]
rs1512235	0.95[ASN][1000 genomes]
rs1512236	0.85[ASN][1000 genomes]
rs2668764	0.92[ASN][1000 genomes]
rs2668767	0.93[ASN][1000 genomes]
rs2668768	0.93[ASN][1000 genomes]
rs2668771	0.90[ASN][1000 genomes]
rs2668772	0.85[ASN][1000 genomes]
rs2684853	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44776400-44778200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr18:44777000-44778200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr18:44777000-44778200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr18:44777200-44778000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:44777200-44778200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr18:44777600-44778000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr18:44777600-44778000	Bivalent Enhancer	Lung	lung
8	chr18:44777600-44778000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr18:44777600-44778200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:44777600-44778200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr18:44777600-44778200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr18:44777600-44778200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr18:44777600-44778200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:44777600-44778200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:44777600-44778200	Enhancers	Pancreas	Pancrea
16	chr18:44777600-44778200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr18:44777600-44778400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr18:44777600-44778400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr18:44777600-44778400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr18:44777600-44778400	Bivalent/Poised TSS	Right Ventricle	heart
21	chr18:44777800-44778000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:44777800-44778000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:44777800-44778000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:44777800-44778000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:44777800-44778000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:44777800-44778000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:44777800-44778000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:44777800-44778000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr18:44777800-44778000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
30	chr18:44777800-44778000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr18:44777800-44778000	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr18:44777800-44778200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr18:44777800-44778200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:44777800-44778200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:44777800-44778200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:44777800-44778200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:44777800-44778200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr18:44777800-44778200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr18:44777800-44778200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr18:44777800-44778200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:44777800-44778200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr18:44777800-44778200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr18:44777800-44778200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr18:44777800-44778200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr18:44777800-44778200	Bivalent Enhancer	Left Ventricle	heart
46	chr18:44777800-44778200	Flanking Active TSS	Right Atrium	heart
47	chr18:44777800-44778200	Bivalent Enhancer	HMEC	breast
48	chr18:44777800-44778400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:44777800-44778400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:44777800-44778400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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