Variant report

Variant	rs2233153
Chromosome Location	chr19:41281106-41281107
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr19:41281037-41281168	GM12878	blood:	n/a	n/a
2	SMC3	chr19:41281051-41281117	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:41280813-41281390	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41281080-41281130	HCM	heart:	n/a
2	chr19:41281104-41281154	Jurkat	blood:	n/a
3	chr19:41281080-41281130	HepG2	liver:	n/a
4	chr19:41281104-41281154	GM06990	blood:	n/a
5	chr19:41281104-41281154	HepG2	liver:	n/a
6	chr19:41281104-41281154	Hepatocyte	liver:	n/a
7	chr19:41281104-41281154	GM19239	blood:	n/a
8	chr19:41281104-41281154	HEEpiC	esophagus:	n/a
9	chr19:41281104-41281154	SK-N-SH_RA	brain:	n/a
10	chr19:41281080-41281130	AG09319	gingival:	n/a
11	chr19:41281104-41281154	ECC-1	luminal epithelium:	n/a
12	chr19:41281080-41281130	A549	lung:	n/a
13	chr19:41281104-41281154	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:41281080-41281130	AoSMC	blood vessel:	n/a
15	chr19:41281104-41281154	NHBE	bronchial:	n/a
16	chr19:41281080-41281130	HMEC	breast:	n/a
17	chr19:41281104-41281154	AG04449	skin:	fetal
18	chr19:41281104-41281154	GM12892	blood:	n/a
19	chr19:41281080-41281130	SK-N-SH	brain:	n/a
20	chr19:41281080-41281130	NHBE	bronchial:	n/a
21	chr19:41281104-41281154	BJ	skin:	n/a
22	chr19:41281080-41281130	SK-N-MC	brain:	n/a
23	chr19:41281080-41281130	LNCaP	prostate:	n/a
24	chr19:41281080-41281130	ovcar-3	ovarian:	n/a
25	chr19:41281104-41281154	HRPEpiC	eye:	n/a
26	chr19:41281104-41281154	HL-60	blood:	n/a
27	chr19:41281104-41281154	PANC-1	pancreas:	n/a
28	chr19:41281080-41281130	BE2_C	brain:	n/a
29	chr19:41281080-41281130	BJ	skin:	n/a
30	chr19:41281080-41281130	PANC-1	pancreas:	n/a
31	chr19:41281080-41281130	HCF	heart:	n/a
32	chr19:41281104-41281154	AG09309	skin:	n/a
33	chr19:41281080-41281130	GM12891	blood:	n/a
34	chr19:41281104-41281154	NT2-D1	testis:	n/a
35	chr19:41281080-41281130	HNPCEpiC	eye:	n/a
36	chr19:41281080-41281130	AG04450	lung:	fetal
37	chr19:41281080-41281130	NH-A	brain:	n/a
38	chr19:41281104-41281154	NB4	blood:	n/a
39	chr19:41281104-41281154	HAEpiC	amniotic membrane:	n/a
40	chr19:41281104-41281154	GM12878	blood:	n/a
41	chr19:41281104-41281154	PrEC	prostate:	n/a
42	chr19:41281104-41281154	HRE	kidney:	n/a
43	chr19:41281080-41281130	SAEC	small airway:	n/a
44	chr19:41281104-41281154	SAEC	small airway:	n/a
45	chr19:41281080-41281130	SKMC	muscle:	n/a
46	chr19:41281104-41281154	H1-hESC	embryonic stem cell:	embryo
47	chr19:41281080-41281130	HPAEpiC	pulmonary alveolar:	n/a
48	chr19:41281104-41281154	ProgFib	skin:	n/a
49	chr19:41281104-41281154	Hela-S3	cervix:	n/a
50	chr19:41281080-41281130	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
2	chr19:41280553..41283413-chr19:41284684..41288209,4	MCF-7	breast:
3	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
4	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
5	chr19:41268609..41270148-chr19:41279766..41281327,2	K562	blood:
6	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:

No data

Variant related genes	Relation type
RAB4B	TF binding region
RAB4B-EGLN2	TF binding region
MIA	TF binding region
RAB4B-EGLN2	CpG island
RAB4B	CpG island
MIA	CpG island
ENSG00000167578	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13108	0.88[ASN][1000 genomes]
rs17726258	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2230694	0.86[ASN][1000 genomes]
rs2233154	0.89[ASN][1000 genomes]
rs2233156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233159	0.89[ASN][1000 genomes]
rs2249854	0.86[ASN][1000 genomes]
rs2279699	0.89[ASN][1000 genomes]
rs2545760	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2545766	0.88[AMR][1000 genomes]
rs2545777	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2545778	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2604866	0.88[AMR][1000 genomes]
rs2604868	0.88[AMR][1000 genomes]
rs2604876	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2604877	0.87[ASN][1000 genomes]
rs2604909	0.84[ASN][1000 genomes]
rs2604910	0.84[ASN][1000 genomes]
rs2604911	0.84[ASN][1000 genomes]
rs2607411	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2607412	0.86[ASN][1000 genomes]
rs2607413	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2607416	0.95[ASN][1000 genomes]
rs2607419	0.88[ASN][1000 genomes]
rs2607421	0.88[ASN][1000 genomes]
rs2607422	0.88[ASN][1000 genomes]
rs2607423	0.88[ASN][1000 genomes]
rs2607425	0.88[ASN][1000 genomes]
rs2607426	0.88[ASN][1000 genomes]
rs2644888	0.88[AMR][1000 genomes]
rs2644915	0.82[AMR][1000 genomes]
rs2644917	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34842744	0.84[ASN][1000 genomes]
rs56891752	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60533951	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8107978	0.89[ASN][1000 genomes]
rs8109099	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
4	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
5	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
6	chr19:41271800-41282600	Weak transcription	HSMM	muscle
7	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:41272000-41281200	Weak transcription	Osteobl	bone
9	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
12	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
13	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
15	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
16	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
17	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:41272200-41281200	Weak transcription	K562	blood
20	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
21	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:41272200-41282600	Weak transcription	Dnd41	blood
23	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
24	chr19:41272200-41282600	Weak transcription	NHLF	lung
25	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
32	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:41272200-41282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:41272200-41282800	Weak transcription	Brain Substantia Nigra	brain
35	chr19:41272200-41282800	Weak transcription	Esophagus	oesophagus
36	chr19:41272200-41282800	Weak transcription	Gastric	stomach
37	chr19:41272200-41282800	Weak transcription	Left Ventricle	heart
38	chr19:41272200-41282800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:41272200-41282800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:41272200-41282800	Weak transcription	Hela-S3	cervix
41	chr19:41272200-41283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:41272400-41282600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:41272400-41282600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:41272400-41282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:41272400-41282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:41272400-41282800	Weak transcription	Brain Anterior Caudate	brain
47	chr19:41272400-41282800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:41272400-41282800	Weak transcription	Pancreas	Pancrea
49	chr19:41272400-41282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:41272600-41281600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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