Variant report

Variant	rs59323918
Chromosome Location	chr5:74331009-74331010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:74330675-74331019	GM12892	blood:	n/a	n/a
2	SP1	chr5:74330640-74331093	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:74330577-74331079	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR3C1	chr5:74330668-74331033	A549	lung:	n/a	n/a
5	RXRA	chr5:74330630-74331017	GM12878	blood:	n/a	n/a
6	PAX5	chr5:74330564-74331123	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:74330645-74331051	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr5:74330651-74331109	GM12878	blood:	n/a	n/a
9	MYC	chr5:74330904-74331011	MCF-7	breast:	n/a	n/a
10	MYC	chr5:74330927-74331054	MCF-7	breast:	n/a	n/a
11	SRF	chr5:74330726-74331018	GM12878	blood:	n/a	n/a
12	GABPA	chr5:74330708-74331012	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:57561542..57564393-chr5:74329604..74332106,2	MCF-7	breast:
2	chr5:74330454..74335475-chr5:74336350..74340630,5	MCF-7	breast:
3	chr5:73980015..73981765-chr5:74329525..74332329,2	MCF-7	breast:

No data

Variant related genes	Relation type
GCNT4	TF binding region
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6883614	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74315200-74332800	Weak transcription	NHDF-Ad	bronchial
3	chr5:74317200-74331400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:74317600-74344200	Weak transcription	Ovary	ovary
5	chr5:74317800-74332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:74320400-74332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
8	chr5:74324000-74332400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:74324400-74333600	Strong transcription	Thymus	Thymus
10	chr5:74325200-74332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74325600-74331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:74325600-74332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:74326600-74331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:74326800-74331600	Strong transcription	Fetal Intestine Small	intestine
15	chr5:74327400-74332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:74327400-74333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:74327600-74332600	Weak transcription	NHLF	lung
18	chr5:74328000-74339400	Weak transcription	Fetal Stomach	stomach
19	chr5:74328200-74331600	Enhancers	Placenta	Placenta
20	chr5:74328600-74333000	Weak transcription	Pancreas	Pancrea
21	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:74328800-74333200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:74329000-74331400	Enhancers	Primary T cells from cord blood	blood
24	chr5:74329000-74332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:74329200-74331600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:74329200-74334200	Enhancers	Stomach Mucosa	stomach
27	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:74329600-74332000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:74329600-74338000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:74329800-74331400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:74329800-74331800	Enhancers	Esophagus	oesophagus
32	chr5:74329800-74334800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:74330000-74331600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:74330400-74331600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:74330400-74339400	Weak transcription	Gastric	stomach
39	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:74330600-74331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:74330600-74332000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr5:74330600-74332200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:74330600-74332200	Weak transcription	HMEC	breast
46	chr5:74330600-74333200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:74330600-74333400	Strong transcription	Fetal Thymus	thymus
48	chr5:74330600-74337200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:74330600-74339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:74330600-74339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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