Variant report

Variant	rs2692677
Chromosome Location	chr3:133615263-133615264
allele	C/T
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:2)
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	POLR2A	chr3:133614081-133615313	H1-neurons	neurons:	n/a	n/a
2	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
3	POLR2A	chr3:133615215-133615268	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr3:133614819-133615285	K562	blood:	n/a	chr3:133614990-133614999
5	CTBP2	chr3:133614118-133615370	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:133614259-133615725	PBDE	blood:	n/a	n/a
7	POLR2A	chr3:133614077-133615286	H1-neurons	neurons:	n/a	n/a
8	RAD21	chr3:133614981-133615298	H1-hESC	embryonic stem cell:	n/a	chr3:133615192-133615211

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133615241-133615291	SKMC	muscle:	n/a
2	chr3:133615241-133615291	PANC-1	pancreas:	n/a
3	chr3:133615241-133615291	AG10803	skin:	n/a
4	chr3:133615241-133615291	Hela-S3	cervix:	n/a
5	chr3:133615241-133615291	HRPEpiC	eye:	n/a
6	chr3:133615241-133615291	AG09309	skin:	n/a
7	chr3:133615241-133615291	GM19239	blood:	n/a
8	chr3:133615241-133615291	MCF-7	breast:	n/a
9	chr3:133615241-133615291	HIPEpiC	eye:	n/a
10	chr3:133615241-133615291	HUVEC	blood vessel:	n/a
11	chr3:133615241-133615291	A549	lung:	n/a
12	chr3:133615241-133615291	BE2_C	brain:	n/a
13	chr3:133615241-133615291	NHBE	bronchial:	n/a
14	chr3:133615241-133615291	HCF	heart:	n/a
15	chr3:133615241-133615291	GM12891	blood:	n/a
16	chr3:133615241-133615291	HCPEpiC	choroid plexus:	n/a
17	chr3:133615241-133615291	ProgFib	skin:	n/a
18	chr3:133615241-133615291	HRCEpiC	kidney:	n/a
19	chr3:133615241-133615291	Jurkat	blood:	n/a
20	chr3:133615241-133615291	HEEpiC	esophagus:	n/a
21	chr3:133615241-133615291	AG04449	skin:	fetal
22	chr3:133615241-133615291	AoSMC	blood vessel:	n/a
23	chr3:133615241-133615291	GM12878	blood:	n/a
24	chr3:133615241-133615291	AG04450	lung:	fetal
25	chr3:133615241-133615291	H1-hESC	embryonic stem cell:	embryo
26	chr3:133615241-133615291	SK-N-MC	brain:	n/a
27	chr3:133615241-133615291	NH-A	brain:	n/a
28	chr3:133615241-133615291	NT2-D1	testis:	n/a
29	chr3:133615241-133615291	HEK293	kidney:	embryo
30	chr3:133615241-133615291	SK-N-SH_RA	brain:	n/a
31	chr3:133615241-133615291	HMEC	breast:	n/a
32	chr3:133615241-133615291	HepG2	liver:	n/a
33	chr3:133615241-133615291	MCF10A-Er-Src	breast:	n/a
34	chr3:133615241-133615291	HCT-116	colon:	n/a
35	chr3:133615241-133615291	GM06990	blood:	n/a
36	chr3:133615241-133615291	BJ	skin:	n/a
37	chr3:133615241-133615291	U87	brain:	n/a
38	chr3:133615241-133615291	ovcar-3	ovarian:	n/a
39	chr3:133615241-133615291	AG09319	gingival:	n/a
40	chr3:133615241-133615291	Hepatocyte	liver:	n/a
41	chr3:133615241-133615291	NB4	blood:	n/a
42	chr3:133615241-133615291	PrEC	prostate:	n/a
43	chr3:133615241-133615291	K562	blood:	n/a
44	chr3:133615241-133615291	SAEC	small airway:	n/a
45	chr3:133615241-133615291	HAEpiC	amniotic membrane:	n/a
46	chr3:133615241-133615291	PFSK-1	brain:	n/a
47	chr3:133615241-133615291	Caco-2	colon:	n/a
48	chr3:133615241-133615291	CMK	blood:	n/a
49	chr3:133615241-133615291	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:133615241-133615291	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133605158..133607453-chr3:133614736..133616247,2	K562	blood:
2	chr3:133613123..133615156-chr3:133615262..133617720,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAB6B	TF binding region
RAB6B	CpG island
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1104916	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358020	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1525886	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1608904	0.82[ASN][1000 genomes]
rs1880667	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1917780	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1917781	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs1949881	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2692676	0.82[ASN][1000 genomes]
rs2692680	0.82[AMR][1000 genomes]
rs2692681	0.88[JPT][hapmap]
rs2692685	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715610	0.88[JPT][hapmap]
rs2715624	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2715629	0.88[JPT][hapmap]
rs2715633	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2887814	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs940898	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs940900	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9811568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9852801	0.80[JPT][hapmap]

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133612600-133615600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:133613000-133615400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:133613200-133615400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:133613200-133615400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:133613400-133615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:133613400-133615400	Active TSS	Colon Smooth Muscle	Colon
9	chr3:133613400-133615400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr3:133613400-133615400	Active TSS	Fetal Kidney	kidney
11	chr3:133613600-133615400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:133613600-133615400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:133613600-133615400	Active TSS	Aorta	Aorta
14	chr3:133613600-133615400	Active TSS	Right Atrium	heart
15	chr3:133613800-133615400	Bivalent/Poised TSS	Osteobl	bone
16	chr3:133614200-133615400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:133614200-133615400	Active TSS	Fetal Heart	heart
18	chr3:133614200-133615400	Bivalent/Poised TSS	NHDF-Ad	bronchial
19	chr3:133614400-133615400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr3:133614400-133615400	Bivalent Enhancer	Fetal Thymus	thymus
21	chr3:133614400-133615400	Bivalent/Poised TSS	NHEK	skin
22	chr3:133614600-133615400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr3:133614800-133615400	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
24	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr3:133614800-133615400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr3:133614800-133615600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr3:133614800-133615600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:133614800-133615600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:133614800-133615600	Flanking Active TSS	Fetal Brain Male	brain
35	chr3:133614800-133615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:133615000-133615400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:133615000-133615400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
41	chr3:133615000-133615400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr3:133615000-133615400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr3:133615000-133615400	Enhancers	Gastric	stomach
47	chr3:133615000-133615400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr3:133615000-133615400	Flanking Active TSS	Right Ventricle	heart
49	chr3:133615000-133615400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr3:133615000-133615600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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