Variant report

Variant	rs2715624
Chromosome Location	chr3:133614764-133614765
allele	C/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	POLR2A	chr3:133614225-133614916	K562	blood:	n/a	n/a
2	TEAD4	chr3:133614297-133614803	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr3:133614605-133614995	PANC-1	pancreas:	n/a	n/a
4	JUND	chr3:133614578-133614904	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr3:133614604-133614795	K562	blood:	n/a	n/a
6	ZNF143	chr3:133614460-133615030	H1-hESC	embryonic stem cell:	n/a	chr3:133614703-133614713 chr3:133614643-133614661 chr3:133614618-133614628
7	YY1	chr3:133614562-133614765	HCT-116	colon:	n/a	n/a
8	EGR1	chr3:133614352-133614770	K562	blood:	n/a	chr3:133614712-133614721
9	HDAC2	chr3:133614466-133614805	HepG2	liver:	n/a	n/a
10	CCNT2	chr3:133614365-133614915	K562	blood:	n/a	n/a
11	TAF1	chr3:133614205-133615246	H1-neurons	neurons:	n/a	n/a
12	TEAD4	chr3:133614254-133614896	HCT-116	colon:	n/a	n/a
13	SIN3AK20	chr3:133614224-133614817	PANC-1	pancreas:	n/a	n/a
14	MAX	chr3:133614189-133615032	ECC-1	luminal epithelium:	n/a	n/a
15	HA-E2F1	chr3:133614435-133614829	Hela-S3	cervix:	n/a	chr3:133614709-133614719 chr3:133614712-133614721 chr3:133614621-133614630
16	JUND	chr3:133614625-133614774	H1-hESC	embryonic stem cell:	n/a	n/a
17	NRF1	chr3:133614206-133615184	SK-N-SH	brain:	n/a	chr3:133614711-133614725 chr3:133614643-133614652 chr3:133614618-133614627
18	MAX	chr3:133614185-133614804	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:133614081-133615313	H1-neurons	neurons:	n/a	n/a
20	MAX	chr3:133614343-133614833	K562	blood:	n/a	n/a
21	REST	chr3:133613335-133615585	H1-neurons	neurons:	n/a	chr3:133614555-133614575 chr3:133614565-133614578 chr3:133613846-133613859 chr3:133614803-133614813 chr3:133614562-133614575 chr3:133613933-133613946 chr3:133613535-133613553 chr3:133615377-133615386 chr3:133614622-133614635
22	MAZ	chr3:133614157-133615158	K562	blood:	n/a	n/a
23	TAF1	chr3:133614146-133615224	H1-neurons	neurons:	n/a	n/a
24	JUND	chr3:133614378-133614976	K562	blood:	n/a	n/a
25	POLR2A	chr3:133614151-133614871	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr3:133614103-133615001	IMR90	lung:	n/a	n/a
27	ZNF263	chr3:133614194-133614778	HEK293-T-REx	kidney:	n/a	chr3:133614493-133614514
28	EGR1	chr3:133614270-133614826	ECC-1	luminal epithelium:	n/a	chr3:133614712-133614721
29	MAX	chr3:133614168-133614835	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr3:133614254-133614814	ECC-1	luminal epithelium:	n/a	n/a
31	SIN3A	chr3:133614143-133615183	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr3:133614118-133615370	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr3:133614217-133614809	MCF-7	breast:	n/a	n/a
34	HMGN3	chr3:133614317-133614954	K562	blood:	n/a	n/a
35	MAX	chr3:133614241-133614784	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr3:133614400-133614813	HCT-116	colon:	n/a	n/a
37	MAX	chr3:133614358-133615027	K562	blood:	n/a	n/a
38	POLR2A	chr3:133614259-133615725	PBDE	blood:	n/a	n/a
39	CHD2	chr3:133614414-133615167	H1-hESC	embryonic stem cell:	n/a	chr3:133614990-133614999
40	FOSL1	chr3:133614435-133614814	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr3:133614077-133615286	H1-neurons	neurons:	n/a	n/a
42	HA-E2F1	chr3:133614243-133615010	MCF-7	breast:	n/a	chr3:133614709-133614719 chr3:133614712-133614721 chr3:133614621-133614630
43	USF1	chr3:133614634-133614823	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr3:133614321-133614816	ECC-1	luminal epithelium:	n/a	n/a
45	ZBTB7A	chr3:133613278-133615238	ECC-1	luminal epithelium:	n/a	chr3:133613968-133613976
46	POLR2A	chr3:133614398-133614844	HUVEC	blood vessel:	n/a	n/a
47	UBTF	chr3:133614288-133614813	K562	blood:	n/a	n/a
48	NRF1	chr3:133614432-133614873	H1-hESC	embryonic stem cell:	n/a	chr3:133614711-133614725 chr3:133614643-133614652 chr3:133614618-133614627
49	POLR2A	chr3:133614455-133614806	HCT-116	colon:	n/a	n/a
50	TEAD4	chr3:133614284-133614839	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133605158..133607453-chr3:133614736..133616247,2	K562	blood:

Variant related genes	Relation type
RAB6B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1104916	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525886	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1917780	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1949881	0.83[ASN][1000 genomes]
rs2692677	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692685	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715633	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2887814	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs940898	0.81[ASN][1000 genomes]
rs940900	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9811568	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133612600-133615200	Active TSS	Brain Anterior Caudate	brain
2	chr3:133612600-133615600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:133612800-133615200	Active TSS	Brain Hippocampus Middle	brain
4	chr3:133613000-133614800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr3:133613000-133615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:133613000-133615400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr3:133613200-133614800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr3:133613200-133614800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
9	chr3:133613200-133615000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:133613200-133615200	Active TSS	Brain Angular Gyrus	brain
11	chr3:133613200-133615400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:133613200-133615400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:133613400-133614800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr3:133613400-133615200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:133613400-133615200	Active TSS	Psoas Muscle	Psoas
18	chr3:133613400-133615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:133613400-133615400	Active TSS	Colon Smooth Muscle	Colon
20	chr3:133613400-133615400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:133613400-133615400	Active TSS	Fetal Kidney	kidney
22	chr3:133613600-133614800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:133613600-133614800	Bivalent/Poised TSS	Stomach Mucosa	stomach
24	chr3:133613600-133615000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:133613600-133615000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr3:133613600-133615000	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr3:133613600-133615000	Active TSS	Rectal Smooth Muscle	rectum
28	chr3:133613600-133615000	Active TSS	A549	lung
29	chr3:133613600-133615000	Bivalent/Poised TSS	HSMM	muscle
30	chr3:133613600-133615200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr3:133613600-133615200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:133613600-133615200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr3:133613600-133615200	Active TSS	Brain Substantia Nigra	brain
34	chr3:133613600-133615200	Active TSS	Fetal Brain Female	brain
35	chr3:133613600-133615200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
36	chr3:133613600-133615200	Bivalent/Poised TSS	Thymus	Thymus
37	chr3:133613600-133615400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:133613600-133615400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:133613600-133615400	Active TSS	Aorta	Aorta
40	chr3:133613600-133615400	Active TSS	Right Atrium	heart
41	chr3:133613800-133614800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:133613800-133614800	Active TSS	Adipose Nuclei	Adipose
43	chr3:133613800-133614800	Weak transcription	Fetal Brain Male	brain
44	chr3:133613800-133614800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr3:133613800-133614800	Bivalent/Poised TSS	Placenta	Placenta
46	chr3:133613800-133614800	Active TSS	NH-A	brain
47	chr3:133613800-133615000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:133613800-133615000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:133613800-133615000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:133613800-133615000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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