Variant report

Variant	rs503100
Chromosome Location	chr3:43128908-43128909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:43128880-43129030	GM12869	blood:	n/a	n/a
2	CTCF	chr3:43128900-43129050	NHEK	skin:	n/a	n/a
3	CTCF	chr3:43128865-43129075	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:43128860-43129010	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr3:43128880-43129030	GM12872	blood:	n/a	n/a
6	CTCF	chr3:43128800-43128950	GM06990	blood:	n/a	n/a
7	RAD21	chr3:43128746-43129027	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:43128760-43128910	RPTEC	kidney:	n/a	n/a
9	CTCF	chr3:43128800-43128950	AG04450	lung:	n/a	n/a
10	CTCF	chr3:43128880-43129030	HBMEC	blood vessel:	n/a	n/a
11	SMC3	chr3:43128838-43129038	GM12878	blood:	n/a	n/a
12	CTCF	chr3:43128860-43129010	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr3:43128849-43129064	GM19239	blood:	n/a	n/a
14	CTCF	chr3:43128880-43129030	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr3:43128867-43129071	GM12892	blood:	n/a	n/a
16	CTCF	chr3:43128860-43129010	HMEC	breast:	n/a	n/a
17	CTCF	chr3:43128840-43128990	GM12872	blood:	n/a	n/a
18	CTCF	chr3:43128820-43128970	GM12874	blood:	n/a	n/a
19	CTCF	chr3:43128860-43129010	BJ	skin:	n/a	n/a
20	CTCF	chr3:43128749-43129118	K562	blood:	n/a	n/a
21	CTCF	chr3:43128860-43129010	AoAF	blood vessel:	n/a	n/a
22	RAD21	chr3:43128834-43129114	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:43128881-43129043	LNCaP	prostate:	n/a	n/a
24	CTCF	chr3:43128840-43128990	HepG2	liver:	n/a	n/a
25	CTCF	chr3:43128820-43128970	GM12873	blood:	n/a	n/a
26	CTCF	chr3:43128887-43129014	HepG2	liver:	n/a	n/a
27	CTCF	chr3:43128900-43129006	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr3:43128860-43129010	AG09319	gingival:	n/a	n/a
29	CTCF	chr3:43128860-43129010	A549	lung:	n/a	n/a
30	CTCF	chr3:43128800-43128950	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:43128880-43129048	Fibrobl	skin:	n/a	n/a
32	CTCF	chr3:43128860-43129010	AG09309	skin:	n/a	n/a
33	RAD21	chr3:43128850-43129017	K562	blood:	n/a	n/a
34	RAD21	chr3:43128770-43129174	ECC-1	luminal epithelium:	n/a	n/a
35	RAD21	chr3:43128832-43129028	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr3:43128900-43129050	HCT-116	colon:	n/a	n/a
37	RAD21	chr3:43128786-43129033	K562	blood:	n/a	n/a
38	CTCF	chr3:43128860-43129010	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr3:43128852-43129041	LNCaP	prostate:	n/a	n/a
40	CTCF	chr3:43128880-43129030	BE2_C	brain:	n/a	n/a
41	RAD21	chr3:43128852-43129095	HepG2	liver:	n/a	n/a
42	CTCF	chr3:43128820-43129030	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr3:43128880-43129030	AoAF	blood vessel:	n/a	n/a
44	RAD21	chr3:43128812-43129105	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr3:43128900-43129050	BE2_C	brain:	n/a	n/a
46	CTCF	chr3:43128880-43129030	HEK293	kidney:	n/a	n/a
47	CTCF	chr3:43128900-43129050	HMF	breast:	n/a	n/a
48	CTCF	chr3:43128752-43129130	K562	blood:	n/a	n/a
49	CTCF	chr3:43128904-43129003	Kidney_OC	kidney:	n/a	n/a
50	ZNF143	chr3:43128842-43129071	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000227245	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12233414	0.84[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs520446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535994	0.89[MKK][hapmap]
rs552472	0.89[MKK][hapmap]
rs574785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs679550	1.00[AFR][1000 genomes];1.00[AMR][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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43119000-43129600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:43119400-43129800	Weak transcription	Fetal Kidney	kidney
3	chr3:43119600-43130400	Weak transcription	Hela-S3	cervix
4	chr3:43119600-43135000	Weak transcription	Psoas Muscle	Psoas
5	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
6	chr3:43122400-43134400	Weak transcription	HepG2	liver
7	chr3:43122400-43145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:43122600-43130200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:43122600-43145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:43122800-43129200	Weak transcription	Brain Anterior Caudate	brain
11	chr3:43122800-43132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:43122800-43132200	Weak transcription	Fetal Lung	lung
13	chr3:43122800-43133000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:43122800-43134800	Weak transcription	Brain Substantia Nigra	brain
15	chr3:43122800-43136000	Weak transcription	Pancreas	Pancrea
16	chr3:43122800-43136400	Weak transcription	HSMMtube	muscle
17	chr3:43122800-43145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:43123000-43129600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:43123000-43132200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:43123000-43132600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:43123000-43135200	Weak transcription	Brain Angular Gyrus	brain
22	chr3:43123000-43136000	Weak transcription	Right Ventricle	heart
23	chr3:43123000-43144400	Weak transcription	Fetal Intestine Large	intestine
24	chr3:43123000-43146400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:43123200-43132000	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:43123200-43140400	Weak transcription	Gastric	stomach
28	chr3:43123200-43144400	Weak transcription	Spleen	Spleen
29	chr3:43123200-43145000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:43123400-43130000	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:43123400-43146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:43123600-43135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:43123600-43135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:43123600-43143600	Weak transcription	Lung	lung
35	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
36	chr3:43123800-43129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:43123800-43129800	Weak transcription	Fetal Stomach	stomach
38	chr3:43123800-43132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:43123800-43136400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:43124000-43133400	Weak transcription	Fetal Brain Male	brain
41	chr3:43124000-43134600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:43124200-43131400	Weak transcription	Ovary	ovary
43	chr3:43124200-43135600	Weak transcription	Fetal Brain Female	brain
44	chr3:43124200-43145000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:43124400-43132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:43124400-43135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:43124400-43136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:43124400-43136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:43124400-43144200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:43124400-43146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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