Variant report

Variant	rs60708187
Chromosome Location	chr5:145215872-145215873
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	CTCF	chr5:145215800-145215950	A549	lung:	n/a	n/a
2	CTCF	chr5:145215800-145215950	HRE	kidney:	n/a	n/a
3	POLR2A	chr5:145214656-145215888	K562	blood:	n/a	n/a
4	CTCF	chr5:145215760-145215910	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr5:145215780-145215930	HepG2	liver:	n/a	n/a
6	CTCF	chr5:145215760-145215910	AG04450	lung:	n/a	n/a
7	RCOR1	chr5:145214001-145216060	IMR90	lung:	n/a	n/a
8	POLR2A	chr5:145214351-145215906	K562	blood:	n/a	n/a
9	CTCF	chr5:145215740-145215890	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145215103..145216674-chr5:145218968..145221764,2	MCF-7	breast:

Variant related genes	Relation type
PRELID2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1001433	0.96[EUR][1000 genomes]
rs10043321	0.96[EUR][1000 genomes]
rs10045188	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10050400	0.96[EUR][1000 genomes]
rs10055545	0.96[EUR][1000 genomes]
rs10071145	0.96[EUR][1000 genomes]
rs10477291	0.96[EUR][1000 genomes]
rs1565437	0.96[EUR][1000 genomes]
rs28451090	0.96[EUR][1000 genomes]
rs28673057	0.87[EUR][1000 genomes]
rs56410343	0.96[EUR][1000 genomes]
rs59511054	0.96[EUR][1000 genomes]
rs60544283	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329004	chr5:145213984-145216532	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145212800-145216000	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:145214600-145216000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:145215000-145216000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr5:145215200-145216000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:145215200-145216000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:145215200-145216000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr5:145215400-145216000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr5:145215400-145216000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr5:145215400-145216000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:145215400-145216000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr5:145215400-145216000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr5:145215400-145216000	Flanking Active TSS	HepG2	liver
13	chr5:145215600-145216000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:145215600-145216000	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:145215600-145216000	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:145215600-145216000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:145215600-145216000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:145215600-145216000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:145215600-145216000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:145215600-145216000	Enhancers	Right Ventricle	heart
21	chr5:145215600-145216000	Enhancers	Stomach Mucosa	stomach
22	chr5:145215600-145217000	Enhancers	Fetal Intestine Large	intestine
23	chr5:145215800-145216000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:145215800-145216000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:145215800-145216000	Active TSS	Adipose Nuclei	Adipose
26	chr5:145215800-145216000	Enhancers	Colonic Mucosa	Colon
27	chr5:145215800-145216000	Enhancers	Colon Smooth Muscle	Colon
28	chr5:145215800-145216000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:145215800-145216000	Enhancers	Fetal Brain Male	brain
30	chr5:145215800-145216000	Enhancers	Fetal Heart	heart
31	chr5:145215800-145216000	Enhancers	Fetal Lung	lung
32	chr5:145215800-145216000	Enhancers	Fetal Muscle Trunk	muscle
33	chr5:145215800-145216000	Enhancers	Fetal Muscle Leg	muscle
34	chr5:145215800-145216000	Enhancers	Left Ventricle	heart
35	chr5:145215800-145216000	Enhancers	Pancreas	Pancrea
36	chr5:145215800-145216000	Enhancers	A549	lung
37	chr5:145215800-145216000	Enhancers	Hela-S3	cervix
38	chr5:145215800-145216000	Enhancers	K562	blood
39	chr5:145215800-145216000	Enhancers	NHDF-Ad	bronchial
40	chr5:145215800-145216000	Enhancers	Osteobl	bone
41	chr5:145215800-145216600	Enhancers	Fetal Intestine Small	intestine
42	chr5:145215800-145216800	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:145215800-145217800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:145215800-145217800	Weak transcription	Right Atrium	heart
45	chr5:145215800-145219600	Weak transcription	NHEK	skin
46	chr5:145215800-145221200	Weak transcription	Psoas Muscle	Psoas

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