Variant report

Variant	rs10045497
Chromosome Location	chr5:74636484-74636485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr5:74636475-74636877	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:74635404-74638705	K562	blood:	n/a	n/a
3	FOS	chr5:74636473-74636959	MCF10A-Er-Src	breast:	n/a	chr5:74636781-74636788
4	CEBPB	chr5:74636472-74637007	MCF-7	breast:	n/a	chr5:74636702-74636713
5	FOS	chr5:74636406-74636961	MCF10A-Er-Src	breast:	n/a	chr5:74636781-74636788
6	POLR2A	chr5:74636225-74636567	HepG2	liver:	n/a	n/a
7	MYC	chr5:74636443-74637024	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:74635294-74637251	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74636472-74636522	LNCaP	prostate:	n/a
2	chr5:74636472-74636522	GM12891	blood:	n/a
3	chr5:74636472-74636522	SK-N-SH	brain:	n/a
4	chr5:74636472-74636522	BJ	skin:	n/a
5	chr5:74636472-74636522	GM12878	blood:	n/a
6	chr5:74636472-74636522	NH-A	brain:	n/a
7	chr5:74636472-74636522	HCM	heart:	n/a
8	chr5:74636472-74636522	HIPEpiC	eye:	n/a
9	chr5:74636472-74636522	IMR90	lung:	fetal
10	chr5:74636472-74636522	NHDF-neo	bronchial:	n/a
11	chr5:74636472-74636522	ovcar-3	ovarian:	n/a
12	chr5:74636472-74636522	AG10803	skin:	n/a
13	chr5:74636472-74636522	AG09309	skin:	n/a
14	chr5:74636472-74636522	SK-N-SH_RA	brain:	n/a
15	chr5:74636472-74636522	HEEpiC	esophagus:	n/a
16	chr5:74636472-74636522	MCF-7	breast:	n/a
17	chr5:74636472-74636522	HL-60	blood:	n/a
18	chr5:74636472-74636522	HRCEpiC	kidney:	n/a
19	chr5:74636472-74636522	ProgFib	skin:	n/a
20	chr5:74636472-74636522	HMEC	breast:	n/a
21	chr5:74636472-74636522	NHBE	bronchial:	n/a
22	chr5:74636472-74636522	SK-N-MC	brain:	n/a
23	chr5:74636472-74636522	AG04450	lung:	fetal
24	chr5:74636472-74636522	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:74636472-74636522	GM06990	blood:	n/a
26	chr5:74636472-74636522	SKMC	muscle:	n/a
27	chr5:74636472-74636522	MCF10A-Er-Src	breast:	n/a
28	chr5:74636472-74636522	Caco-2	colon:	n/a
29	chr5:74636472-74636522	NT2-D1	testis:	n/a
30	chr5:74636472-74636522	HAEpiC	amniotic membrane:	n/a
31	chr5:74636472-74636522	BE2_C	brain:	n/a
32	chr5:74636472-74636522	PrEC	prostate:	n/a
33	chr5:74636472-74636522	HCF	heart:	n/a
34	chr5:74636472-74636522	HCT-116	colon:	n/a
35	chr5:74636472-74636522	PANC-1	pancreas:	n/a
36	chr5:74636472-74636522	ECC-1	luminal epithelium:	n/a
37	chr5:74636472-74636522	Hela-S3	cervix:	n/a
38	chr5:74636472-74636522	RPTEC	kidney:	n/a
39	chr5:74636472-74636522	AG09319	gingival:	n/a
40	chr5:74636472-74636522	GM12892	blood:	n/a
41	chr5:74636472-74636522	GM19239	blood:	n/a
42	chr5:74636472-74636522	PFSK-1	brain:	n/a
43	chr5:74636472-74636522	SAEC	small airway:	n/a
44	chr5:74636472-74636522	A549	lung:	n/a
45	chr5:74636472-74636522	NB4	blood:	n/a
46	chr5:74636472-74636522	HepG2	liver:	n/a
47	chr5:74636472-74636522	T-47D	breast:	n/a
48	chr5:74636472-74636522	H1-hESC	embryonic stem cell:	embryo
49	chr5:74636472-74636522	HRE	kidney:	n/a
50	chr5:74636472-74636522	HCPEpiC	choroid plexus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74631860..74634058-chr5:74635733..74638438,3	K562	blood:
2	chr5:74631743..74634413-chr5:74635532..74638842,4	MCF-7	breast:
3	chr5:74634550..74639803-chr5:74643156..74647439,6	MCF-7	breast:
4	chr5:74635529..74638325-chr5:74638352..74640818,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247372	TF binding region
ENSG00000247372	CpG island
ENSG00000113161	Chromatin interaction
ENSG00000247372	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10038095	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10474433	0.81[CEU][hapmap]
rs11749783	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12654264	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12916	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17244834	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2878417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs2878419	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3843480	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3843481	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3843482	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3846661	0.86[EUR][1000 genomes]
rs3846662	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3846663	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4549504	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4604177	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4704210	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453131	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878990	0.84[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs6882842	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7703051	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Lipid traits	24386095	GWAS catalog

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74632200-74638400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr5:74632400-74636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:74633800-74638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:74633800-74645800	Weak transcription	Gastric	stomach
7	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
8	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
9	chr5:74634000-74637000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:74634000-74637200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:74634000-74638800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:74634000-74640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:74634000-74640400	Weak transcription	Left Ventricle	heart
14	chr5:74634200-74636800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr5:74634200-74639200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:74634200-74641200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:74634200-74641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:74634400-74636800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:74634400-74636800	Enhancers	Stomach Mucosa	stomach
20	chr5:74634400-74640400	Weak transcription	Lung	lung
21	chr5:74634400-74640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:74634400-74645400	Weak transcription	Psoas Muscle	Psoas
23	chr5:74634400-74645600	Weak transcription	Esophagus	oesophagus
24	chr5:74634400-74650800	Weak transcription	Aorta	Aorta
25	chr5:74634400-74652400	Weak transcription	Right Ventricle	heart
26	chr5:74634600-74636800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:74634600-74639400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:74634600-74640000	Weak transcription	Colonic Mucosa	Colon
29	chr5:74634600-74640000	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:74634600-74640800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:74634600-74642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:74634600-74644200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:74634800-74638000	Enhancers	Liver	Liver
34	chr5:74634800-74639600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:74634800-74639600	Weak transcription	Osteobl	bone
36	chr5:74634800-74641200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:74634800-74641400	Weak transcription	Primary T cells from cord blood	blood
38	chr5:74634800-74641400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:74634800-74641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:74635000-74636600	Enhancers	Fetal Brain Male	brain
41	chr5:74635000-74636600	Weak transcription	HSMMtube	muscle
42	chr5:74635000-74637600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:74635000-74638200	Weak transcription	Fetal Thymus	thymus
44	chr5:74635000-74638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:74635000-74638400	Weak transcription	Fetal Stomach	stomach
46	chr5:74635000-74638800	Weak transcription	Fetal Intestine Small	intestine
47	chr5:74635000-74639200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:74635000-74639400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:74635000-74639600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:74635000-74639800	Weak transcription	Primary B cells from peripheral blood	blood

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