Variant report

Variant	rs1296982
Chromosome Location	chr4:187520347-187520348
allele	A/C
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	chr4:187519938-187520829	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187516733..187519515-chr4:187519671..187523118,3	K562	blood:

Variant related genes	Relation type
FAT1	TF binding region
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1280094	1.00[EUR][1000 genomes]
rs1280101	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1280104	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2584352	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs28755815	1.00[EUR][1000 genomes]
rs57648245	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60498548	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187501200-187527400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:187501200-187542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:187501400-187527400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:187501800-187562200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:187502400-187521200	Weak transcription	Small Intestine	intestine
6	chr4:187502800-187535200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:187503000-187527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:187503800-187527400	Strong transcription	NH-A	brain
9	chr4:187503800-187533000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:187503800-187542600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:187504200-187554600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:187504400-187522400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:187504400-187527600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:187504400-187545200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:187504800-187525800	Strong transcription	NHEK	skin
16	chr4:187504800-187544000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:187505000-187527200	Strong transcription	HMEC	breast
18	chr4:187505200-187532000	Weak transcription	Thymus	Thymus
19	chr4:187505200-187538800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:187505200-187544400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:187505600-187525800	Strong transcription	HSMM	muscle
22	chr4:187506000-187526600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:187506800-187527400	Strong transcription	HSMMtube	muscle
24	chr4:187506800-187546000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:187507000-187546200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:187507600-187524200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:187508000-187527200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:187508000-187542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:187508200-187572600	Weak transcription	Psoas Muscle	Psoas
30	chr4:187508800-187527600	Strong transcription	Osteobl	bone
31	chr4:187508800-187560800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:187509200-187560600	Strong transcription	Fetal Intestine Large	intestine
33	chr4:187509400-187522200	Strong transcription	Fetal Intestine Small	intestine
34	chr4:187509400-187525600	Strong transcription	HepG2	liver
35	chr4:187509400-187565000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:187509600-187522600	Strong transcription	Fetal Stomach	stomach
37	chr4:187509600-187528000	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:187509600-187534600	Strong transcription	Adipose Nuclei	Adipose
39	chr4:187510800-187524400	Weak transcription	K562	blood
40	chr4:187511600-187531400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:187512200-187522600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:187512200-187528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:187512200-187543600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:187512200-187544600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:187512400-187544600	Weak transcription	Hela-S3	cervix
46	chr4:187513000-187545000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:187513400-187542200	Strong transcription	NHLF	lung
48	chr4:187513800-187521800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:187513800-187545000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:187513800-187545600	Strong transcription	Fetal Muscle Trunk	muscle

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