Variant report

Variant	rs66460756
Chromosome Location	chr4:26863841-26863842
allele	A/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	CHD1	chr4:26861257-26864940	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:26863529-26864000	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr4:26861551-26864198	IMR90	lung:	n/a	n/a
4	MYC	chr4:26863682-26863870	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr4:26861663-26863880	H1-neurons	neurons:	n/a	chr4:26863452-26863459 chr4:26862293-26862306 chr4:26862476-26862494
6	RUNX3	chr4:26863006-26863960	GM12878	blood:	n/a	chr4:26863862-26863871 chr4:26863862-26863871

Variant related genes	Relation type
ENSG00000240005	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34086310	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36053391	0.81[AFR][1000 genomes]

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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3403917	chr4:26861379-26864227	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66460756	RP11-293A21.1	cis	lung	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26860200-26864600	Active TSS	Fetal Muscle Trunk	muscle
2	chr4:26861200-26864000	Active TSS	Fetal Kidney	kidney
3	chr4:26861400-26864200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr4:26861400-26864400	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:26861600-26864000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:26861600-26864000	Active TSS	Psoas Muscle	Psoas
7	chr4:26861600-26864200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:26861600-26864200	Active TSS	Aorta	Aorta
9	chr4:26861600-26864200	Active TSS	Fetal Intestine Large	intestine
10	chr4:26861600-26864200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:26861600-26864400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:26861600-26864600	Active TSS	HSMM	muscle
13	chr4:26861600-26864800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:26861600-26865400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:26861600-26865400	Active TSS	Right Atrium	heart
16	chr4:26861600-26865800	Active TSS	NHLF	lung
17	chr4:26861800-26864000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:26861800-26864000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:26861800-26864000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:26861800-26864000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:26861800-26864000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:26861800-26864000	Active TSS	Brain Anterior Caudate	brain
23	chr4:26861800-26864000	Active TSS	Fetal Lung	lung
24	chr4:26861800-26864000	Active TSS	A549	lung
25	chr4:26861800-26864200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:26861800-26864200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:26861800-26864200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:26861800-26864200	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr4:26861800-26864200	Active TSS	Brain Angular Gyrus	brain
30	chr4:26861800-26864200	Active TSS	Brain Cingulate Gyrus	brain
31	chr4:26861800-26864200	Active TSS	Brain Hippocampus Middle	brain
32	chr4:26861800-26864200	Active TSS	Colonic Mucosa	Colon
33	chr4:26861800-26864200	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:26861800-26864200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr4:26861800-26864200	Active TSS	Fetal Brain Female	brain
36	chr4:26861800-26864200	Active TSS	NHDF-Ad	bronchial
37	chr4:26861800-26864200	Active TSS	NHEK	skin
38	chr4:26861800-26864400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:26861800-26864400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:26861800-26864400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:26861800-26864400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr4:26861800-26864600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:26861800-26864600	Active TSS	Fetal Stomach	stomach
44	chr4:26861800-26864800	Active TSS	Stomach Smooth Muscle	stomach
45	chr4:26861800-26865400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:26861800-26865400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr4:26861800-26865600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:26861800-26865800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:26861800-26866000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr4:26861800-26866600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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