Variant report

Variant	rs2692678
Chromosome Location	chr3:133613788-133613789
allele	C/T
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	chr3:133613181-133613978	H1-neurons	neurons:	n/a	n/a
2	MAX	chr3:133613171-133613967	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:133611092-133613907	PBDE	blood:	n/a	n/a
4	POLR2A	chr3:133613263-133614012	H1-neurons	neurons:	n/a	n/a
5	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
6	MAZ	chr3:133613192-133613820	K562	blood:	n/a	n/a
7	MXI1	chr3:133613334-133613831	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:133613660-133613810	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr3:133613720-133613870	NHEK	skin:	n/a	n/a
10	CTCF	chr3:133613674-133613791	LNCaP	prostate:	n/a	n/a
11	CTCF	chr3:133613640-133613790	GM12871	blood:	n/a	n/a
12	MAX	chr3:133613414-133613997	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr3:133613576-133613810	LNCaP	prostate:	n/a	n/a
14	POLR2A	chr3:133613407-133613884	K562	blood:	n/a	n/a
15	CTBP2	chr3:133612926-133613901	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr3:133613109-133613816	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr3:133613028-133613934	H1-hESC	embryonic stem cell:	n/a	chr3:133613849-133613862
18	ZBTB7A	chr3:133613278-133615238	ECC-1	luminal epithelium:	n/a	chr3:133613968-133613976
19	CTCF	chr3:133613640-133613790	SK-N-SH_RA	brain:	n/a	n/a
20	TCF12	chr3:133613022-133614043	ECC-1	luminal epithelium:	n/a	chr3:133613122-133613132
21	ZBTB7A	chr3:133613106-133615161	ECC-1	luminal epithelium:	n/a	chr3:133613968-133613976
22	MAX	chr3:133613104-133613955	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr3:133613235-133614059	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
RAB6B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1608904	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2692676	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2692681	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2692683	0.91[AMR][1000 genomes]
rs2715610	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2715618	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2715629	0.90[AMR][1000 genomes];0.82[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133610200-133614000	Enhancers	Fetal Heart	heart
2	chr3:133612600-133614000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr3:133612600-133615200	Active TSS	Brain Anterior Caudate	brain
4	chr3:133612600-133615600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:133612800-133613800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:133612800-133613800	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr3:133612800-133613800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr3:133612800-133613800	Flanking Active TSS	Fetal Brain Male	brain
9	chr3:133612800-133614200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr3:133612800-133615200	Active TSS	Brain Hippocampus Middle	brain
11	chr3:133613000-133613800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:133613000-133613800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:133613000-133614800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr3:133613000-133615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:133613000-133615400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:133613200-133613800	Flanking Active TSS	Left Ventricle	heart
17	chr3:133613200-133613800	Flanking Active TSS	Right Ventricle	heart
18	chr3:133613200-133614000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:133613200-133614000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:133613200-133614200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:133613200-133614400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr3:133613200-133614800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:133613200-133614800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr3:133613200-133615000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:133613200-133615200	Active TSS	Brain Angular Gyrus	brain
26	chr3:133613200-133615400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr3:133613200-133615400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr3:133613400-133613800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:133613400-133613800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr3:133613400-133613800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr3:133613400-133613800	Flanking Active TSS	Esophagus	oesophagus
34	chr3:133613400-133613800	Enhancers	Fetal Lung	lung
35	chr3:133613400-133613800	Flanking Bivalent TSS/Enh	Placenta	Placenta
36	chr3:133613400-133613800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr3:133613400-133613800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr3:133613400-133613800	Flanking Active TSS	K562	blood
39	chr3:133613400-133613800	Flanking Bivalent TSS/Enh	NH-A	brain
40	chr3:133613400-133614000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:133613400-133614000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:133613400-133614000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr3:133613400-133614000	Flanking Active TSS	Pancreas	Pancrea
44	chr3:133613400-133614200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr3:133613400-133614200	Enhancers	Lung	lung
46	chr3:133613400-133614800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr3:133613400-133615200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:133613400-133615200	Active TSS	Psoas Muscle	Psoas
49	chr3:133613400-133615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:133613400-133615400	Active TSS	Colon Smooth Muscle	Colon

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