Variant report

Variant	rs3811663
Chromosome Location	chr3:133615140-133615141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr3:133614205-133615246	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr3:133615040-133615190	HCPEpiC	choroid plexus:	n/a	n/a
3	NRF1	chr3:133614206-133615184	SK-N-SH	brain:	n/a	chr3:133614711-133614725 chr3:133614643-133614652 chr3:133614618-133614627
4	POLR2A	chr3:133614081-133615313	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	chr3:133614157-133615158	K562	blood:	n/a	n/a
7	TAF1	chr3:133614146-133615224	H1-neurons	neurons:	n/a	n/a
8	CHD2	chr3:133614819-133615285	K562	blood:	n/a	chr3:133614990-133614999
9	SIN3A	chr3:133614143-133615183	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr3:133614118-133615370	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:133615109-133615162	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:133614259-133615725	PBDE	blood:	n/a	n/a
13	CHD2	chr3:133614414-133615167	H1-hESC	embryonic stem cell:	n/a	chr3:133614990-133614999
14	POLR2A	chr3:133614077-133615286	H1-neurons	neurons:	n/a	n/a
15	RAD21	chr3:133614981-133615298	H1-hESC	embryonic stem cell:	n/a	chr3:133615192-133615211
16	ZBTB7A	chr3:133613278-133615238	ECC-1	luminal epithelium:	n/a	chr3:133613968-133613976
17	ZBTB7A	chr3:133613106-133615161	ECC-1	luminal epithelium:	n/a	chr3:133613968-133613976
18	POLR2A	chr3:133614934-133615229	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133615119-133615169	HIPEpiC	eye:	n/a
2	chr3:133615119-133615169	AG10803	skin:	n/a
3	chr3:133615119-133615169	HMEC	breast:	n/a
4	chr3:133615119-133615169	AG09309	skin:	n/a
5	chr3:133615119-133615169	GM19239	blood:	n/a
6	chr3:133615119-133615169	HRPEpiC	eye:	n/a
7	chr3:133615119-133615169	HCM	heart:	n/a
8	chr3:133615119-133615169	RPTEC	kidney:	n/a
9	chr3:133615119-133615169	SK-N-SH	brain:	n/a
10	chr3:133615119-133615169	H1-hESC	embryonic stem cell:	embryo
11	chr3:133615119-133615169	GM12878	blood:	n/a
12	chr3:133615119-133615169	HEEpiC	esophagus:	n/a
13	chr3:133615119-133615169	NHDF-neo	bronchial:	n/a
14	chr3:133615119-133615169	Caco-2	colon:	n/a
15	chr3:133615119-133615169	MCF-7	breast:	n/a
16	chr3:133615119-133615169	NH-A	brain:	n/a
17	chr3:133615119-133615169	ECC-1	luminal epithelium:	n/a
18	chr3:133615119-133615169	MCF10A-Er-Src	breast:	n/a
19	chr3:133615119-133615169	AG09319	gingival:	n/a
20	chr3:133615119-133615169	BJ	skin:	n/a
21	chr3:133615119-133615169	NHBE	bronchial:	n/a
22	chr3:133615119-133615169	GM12892	blood:	n/a
23	chr3:133615119-133615169	GM06990	blood:	n/a
24	chr3:133615119-133615169	A549	lung:	n/a
25	chr3:133615119-133615169	IMR90	lung:	fetal
26	chr3:133615119-133615169	HRCEpiC	kidney:	n/a
27	chr3:133615119-133615169	U87	brain:	n/a
28	chr3:133615119-133615169	SK-N-MC	brain:	n/a
29	chr3:133615119-133615169	GM12891	blood:	n/a
30	chr3:133615119-133615169	PFSK-1	brain:	n/a
31	chr3:133615119-133615169	AG04450	lung:	fetal
32	chr3:133615119-133615169	AoSMC	blood vessel:	n/a
33	chr3:133615119-133615169	Hela-S3	cervix:	n/a
34	chr3:133615119-133615169	SAEC	small airway:	n/a
35	chr3:133615119-133615169	HepG2	liver:	n/a
36	chr3:133615119-133615169	HNPCEpiC	eye:	n/a
37	chr3:133615119-133615169	ovcar-3	ovarian:	n/a
38	chr3:133615119-133615169	K562	blood:	n/a
39	chr3:133615119-133615169	T-47D	breast:	n/a
40	chr3:133615119-133615169	Jurkat	blood:	n/a
41	chr3:133615119-133615169	NT2-D1	testis:	n/a
42	chr3:133615119-133615169	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:133615119-133615169	BE2_C	brain:	n/a
44	chr3:133615119-133615169	HUVEC	blood vessel:	n/a
45	chr3:133615119-133615169	CMK	blood:	n/a
46	chr3:133615119-133615169	AG04449	skin:	fetal
47	chr3:133615119-133615169	HCPEpiC	choroid plexus:	n/a
48	chr3:133615119-133615169	HAEpiC	amniotic membrane:	n/a
49	chr3:133615119-133615169	HL-60	blood:	n/a
50	chr3:133615119-133615169	NB4	blood:	n/a

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

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

No data

Variant related genes	Relation type
RAB6B	TF binding region
RAB6B	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10212397	0.88[ASN][1000 genomes]
rs10935088	0.92[ASN][1000 genomes]
rs11706007	0.99[ASN][1000 genomes]
rs12492380	0.88[ASN][1000 genomes]
rs13325953	0.99[ASN][1000 genomes]
rs1589900	0.99[ASN][1000 genomes]
rs2222633	0.99[ASN][1000 genomes]
rs2222634	0.99[ASN][1000 genomes]
rs2370639	0.99[ASN][1000 genomes]
rs6762758	0.93[ASN][1000 genomes]
rs6787108	0.93[ASN][1000 genomes]
rs7636726	0.93[ASN][1000 genomes]
rs7638839	0.99[ASN][1000 genomes]
rs7641276	0.99[ASN][1000 genomes]
rs7651963	0.99[ASN][1000 genomes]
rs9813363	0.89[ASN][1000 genomes]
rs9815710	0.88[ASN][1000 genomes]
rs9824250	0.96[ASN][1000 genomes]
rs9824788	0.99[ASN][1000 genomes]
rs9840311	0.93[ASN][1000 genomes]
rs9844944	0.88[ASN][1000 genomes]
rs9861470	0.88[ASN][1000 genomes]
rs9879849	0.93[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:106 , 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	chr3:133613000-133615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:133613000-133615400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:133613200-133615200	Active TSS	Brain Angular Gyrus	brain
7	chr3:133613200-133615400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr3:133613200-133615400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:133613400-133615200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:133613400-133615200	Active TSS	Psoas Muscle	Psoas
13	chr3:133613400-133615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:133613400-133615400	Active TSS	Colon Smooth Muscle	Colon
15	chr3:133613400-133615400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:133613400-133615400	Active TSS	Fetal Kidney	kidney
17	chr3:133613600-133615200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr3:133613600-133615200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:133613600-133615200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:133613600-133615200	Active TSS	Brain Substantia Nigra	brain
21	chr3:133613600-133615200	Active TSS	Fetal Brain Female	brain
22	chr3:133613600-133615200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
23	chr3:133613600-133615200	Bivalent/Poised TSS	Thymus	Thymus
24	chr3:133613600-133615400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:133613600-133615400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:133613600-133615400	Active TSS	Aorta	Aorta
27	chr3:133613600-133615400	Active TSS	Right Atrium	heart
28	chr3:133613800-133615200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:133613800-133615200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr3:133613800-133615200	Active TSS	Left Ventricle	heart
31	chr3:133613800-133615200	Bivalent/Poised TSS	HepG2	liver
32	chr3:133613800-133615400	Bivalent/Poised TSS	Osteobl	bone
33	chr3:133614000-133615200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:133614000-133615200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr3:133614200-133615200	Active TSS	Hela-S3	cervix
36	chr3:133614200-133615400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:133614200-133615400	Active TSS	Fetal Heart	heart
38	chr3:133614200-133615400	Bivalent/Poised TSS	NHDF-Ad	bronchial
39	chr3:133614400-133615200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:133614400-133615400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr3:133614400-133615400	Bivalent Enhancer	Fetal Thymus	thymus
42	chr3:133614400-133615400	Bivalent/Poised TSS	NHEK	skin
43	chr3:133614600-133615200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr3:133614600-133615400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:133614800-133615200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:133614800-133615200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:133614800-133615200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
48	chr3:133614800-133615200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr3:133614800-133615200	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr3:133614800-133615200	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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