Variant report

Variant	rs577426383
Chromosome Location	chr5:43313299-43313300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr12:51441733..51442384-chr5:43313064..43313818,2	Hela-S3	cervix:
3	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
4	chr11:10326187..10326797-chr5:43313200..43313910,3	Hela-S3	cervix:
5	chr5:43313042..43313554-chr7:135346811..135347540,2	Hela-S3	cervix:
6	chr15:50646870..50647644-chr5:43312964..43313963,2	NB4	blood:
7	chr12:77272569..77273439-chr5:43312965..43313782,2	Hela-S3	cervix:
8	chr5:43119704..43122543-chr5:43311544..43313949,2	K562	blood:
9	chr20:30194518..30195107-chr5:43313256..43313840,2	HCT-116	colon:
10	chr5:43313205..43313755-chr6:36562071..36562633,2	Hela-S3	cervix:
11	chr5:43312988..43313562-chrX:48755061..48755628,2	Hela-S3	cervix:
12	chr5:43066779..43068606-chr5:43311507..43313844,2	K562	blood:
13	chr11:62608892..62609622-chr5:43312996..43313549,2	NB4	blood:
14	chr5:43064535..43068771-chr5:43312463..43314872,5	MCF-7	breast:
15	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
16	chr5:10760496..10761419-chr5:43313096..43313838,2	Hela-S3	cervix:
17	chr5:43312211..43314783-chr5:43395042..43398709,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000243317	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000126768	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000102103	Chromatin interaction
ENSG00000272324	Chromatin interaction
ENSG00000112977	Chromatin interaction
ENSG00000175183	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1793502	chr5:43313178-43314216	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43307800-43313400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:43310000-43314200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:43310600-43313600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:43310600-43314000	Active TSS	HSMMtube	muscle
5	chr5:43311000-43313600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:43311000-43313600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:43311000-43314000	Active TSS	Fetal Brain Male	brain
8	chr5:43311000-43314000	Active TSS	GM12878-XiMat	blood
9	chr5:43311200-43313600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:43311200-43313600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:43311200-43313800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:43311400-43313600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:43311400-43313600	Active TSS	Lung	lung
14	chr5:43311400-43314200	Active TSS	NHLF	lung
15	chr5:43311600-43313600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:43311800-43314200	Active TSS	Fetal Intestine Large	intestine
17	chr5:43312000-43314000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:43312000-43314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:43312000-43314000	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr5:43312000-43314200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:43312000-43314400	Active TSS	Fetal Muscle Trunk	muscle
22	chr5:43312200-43313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:43312200-43314000	Active TSS	Esophagus	oesophagus
24	chr5:43312200-43314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:43312400-43313600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:43312400-43313600	Bivalent/Poised TSS	HepG2	liver
27	chr5:43312400-43314000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:43312400-43314000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr5:43312400-43314000	Active TSS	NHDF-Ad	bronchial
30	chr5:43312400-43314200	Active TSS	A549	lung
31	chr5:43312400-43314400	Active TSS	Ovary	ovary
32	chr5:43312600-43313600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:43312600-43313600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:43312600-43313600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:43312600-43313600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:43312600-43313600	Active TSS	Gastric	stomach
37	chr5:43312600-43313800	Active TSS	K562	blood
38	chr5:43312600-43314000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:43312600-43314000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:43312600-43314000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr5:43312600-43314000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:43312600-43314000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:43312600-43314000	Active TSS	Fetal Kidney	kidney
44	chr5:43312600-43314000	Active TSS	Left Ventricle	heart
45	chr5:43312600-43314000	Active TSS	Pancreas	Pancrea
46	chr5:43312600-43314000	Active TSS	HMEC	breast
47	chr5:43312600-43314000	Active TSS	HSMM	muscle
48	chr5:43312600-43314200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:43312600-43314200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:43312600-43314200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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