Variant report

Variant	rs2239510
Chromosome Location	chr19:36611284-36611285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr19:36610939-36611480	HepG2	liver:	n/a	n/a
2	KAP1	chr19:36610727-36611361	HEK293	kidney:	n/a	n/a
3	FOXA1	chr19:36610819-36611442	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:36611052-36611513	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:36610078-36612354	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:36610804-36611859	HepG2	liver:	n/a	n/a
7	ELF1	chr19:36610935-36611394	HepG2	liver:	n/a	chr19:36611208-36611219
8	EP300	chr19:36610949-36611395	HepG2	liver:	n/a	n/a
9	MAZ	chr19:36611001-36611415	HepG2	liver:	n/a	n/a
10	RCOR1	chr19:36610862-36611440	HepG2	liver:	n/a	n/a
11	EP300	chr19:36610843-36611678	HepG2	liver:	n/a	n/a
12	RXRA	chr19:36610968-36611364	HepG2	liver:	n/a	n/a
13	EP300	chr19:36610980-36611350	HepG2	liver:	n/a	n/a
14	HNF4G	chr19:36610944-36611482	HepG2	liver:	n/a	n/a
15	FOXA2	chr19:36610596-36611640	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:36610979-36611415	HepG2	liver:	n/a	n/a
17	HNF4A	chr19:36610947-36611627	HepG2	liver:	n/a	n/a
18	MBD4	chr19:36610856-36611541	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:36610937-36612076	HepG2	liver:	n/a	n/a
20	TEAD4	chr19:36610847-36611435	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:36610869-36611705	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr19:36610983-36611328	HepG2	liver:	n/a	n/a
23	JUND	chr19:36610976-36611391	HepG2	liver:	n/a	n/a
24	MAFK	chr19:36611022-36611374	HepG2	liver:	n/a	n/a
25	HDAC2	chr19:36610896-36611407	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr19:36610899-36611323	HepG2	liver:	n/a	n/a
27	MYBL2	chr19:36610809-36611855	HepG2	liver:	n/a	n/a
28	TAF1	chr19:36610937-36611717	HepG2	liver:	n/a	n/a
29	HEY1	chr19:36610814-36611669	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:36610908-36611754	HepG2	liver:	n/a	n/a
31	HNF4G	chr19:36610904-36611445	HepG2	liver:	n/a	n/a
32	TBP	chr19:36610913-36611451	HepG2	liver:	n/a	n/a
33	FOXA2	chr19:36610897-36611313	HepG2	liver:	n/a	n/a
34	ARID3A	chr19:36610972-36611296	HepG2	liver:	n/a	n/a
35	CEBPD	chr19:36610986-36611508	HepG2	liver:	n/a	n/a
36	MXI1	chr19:36610940-36611436	HepG2	liver:	n/a	n/a
37	MYBL2	chr19:36610865-36611440	HepG2	liver:	n/a	n/a
38	MAX	chr19:36610813-36611851	HepG2	liver:	n/a	n/a
39	TAF1	chr19:36610981-36611664	HepG2	liver:	n/a	n/a
40	ELF1	chr19:36610958-36611337	HepG2	liver:	n/a	chr19:36611208-36611219
41	POLR2A	chr19:36610843-36612074	PANC-1	pancreas:	n/a	n/a
42	SP1	chr19:36610850-36611568	HepG2	liver:	n/a	n/a
43	FOXA1	chr19:36610901-36611404	HepG2	liver:	n/a	n/a
44	MAX	chr19:36610973-36611362	HepG2	liver:	n/a	n/a
45	MAX	chr19:36610807-36611984	HepG2	liver:	n/a	n/a
46	HEY1	chr19:36610834-36611642	HepG2	liver:	n/a	n/a
47	MBD4	chr19:36610883-36611592	HepG2	liver:	n/a	n/a
48	NFIC	chr19:36610894-36611380	HepG2	liver:	n/a	n/a
49	NFIC	chr19:36610877-36611513	HepG2	liver:	n/a	n/a
50	RAD21	chr19:36611048-36611441	HepG2	liver:	n/a	chr19:36611289-36611301

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36611273-36611323	NHDF-neo	bronchial:	n/a
2	chr19:36611273-36611323	CMK	blood:	n/a
3	chr19:36611273-36611323	AG09319	gingival:	n/a
4	chr19:36611273-36611323	HCM	heart:	n/a
5	chr19:36611273-36611323	AG04449	skin:	fetal
6	chr19:36611273-36611323	HNPCEpiC	eye:	n/a
7	chr19:36611273-36611323	HRCEpiC	kidney:	n/a
8	chr19:36611273-36611323	ovcar-3	ovarian:	n/a
9	chr19:36611273-36611323	GM06990	blood:	n/a
10	chr19:36611273-36611323	AoSMC	blood vessel:	n/a
11	chr19:36611273-36611323	PrEC	prostate:	n/a
12	chr19:36611273-36611323	HIPEpiC	eye:	n/a
13	chr19:36611273-36611323	HRE	kidney:	n/a
14	chr19:36611273-36611323	Hela-S3	cervix:	n/a
15	chr19:36611273-36611323	HAEpiC	amniotic membrane:	n/a
16	chr19:36611273-36611323	RPTEC	kidney:	n/a
17	chr19:36611273-36611323	BE2_C	brain:	n/a
18	chr19:36611273-36611323	HL-60	blood:	n/a
19	chr19:36611273-36611323	GM12892	blood:	n/a
20	chr19:36611273-36611323	Hepatocyte	liver:	n/a
21	chr19:36611273-36611323	PFSK-1	brain:	n/a
22	chr19:36611273-36611323	NB4	blood:	n/a
23	chr19:36611273-36611323	HEK293	kidney:	embryo
24	chr19:36611273-36611323	HCT-116	colon:	n/a
25	chr19:36611273-36611323	SKMC	muscle:	n/a
26	chr19:36611273-36611323	SK-N-MC	brain:	n/a
27	chr19:36611273-36611323	K562	blood:	n/a
28	chr19:36611273-36611323	NHBE	bronchial:	n/a
29	chr19:36611273-36611323	T-47D	breast:	n/a
30	chr19:36611273-36611323	Caco-2	colon:	n/a
31	chr19:36611273-36611323	U87	brain:	n/a
32	chr19:36611273-36611323	HMEC	breast:	n/a
33	chr19:36611273-36611323	GM12891	blood:	n/a
34	chr19:36611273-36611323	AG09309	skin:	n/a
35	chr19:36611273-36611323	IMR90	lung:	fetal
36	chr19:36611273-36611323	HCPEpiC	choroid plexus:	n/a
37	chr19:36611273-36611323	ProgFib	skin:	n/a
38	chr19:36611273-36611323	HCF	heart:	n/a
39	chr19:36611273-36611323	LNCaP	prostate:	n/a
40	chr19:36611273-36611323	AG04450	lung:	fetal
41	chr19:36611273-36611323	MCF-7	breast:	n/a
42	chr19:36611273-36611323	HEEpiC	esophagus:	n/a
43	chr19:36611273-36611323	AG10803	skin:	n/a
44	chr19:36611273-36611323	NT2-D1	testis:	n/a
45	chr19:36611273-36611323	PANC-1	pancreas:	n/a
46	chr19:36611273-36611323	A549	lung:	n/a
47	chr19:36611273-36611323	HPAEpiC	pulmonary alveolar:	n/a
48	chr19:36611273-36611323	NH-A	brain:	n/a
49	chr19:36611273-36611323	SK-N-SH_RA	brain:	n/a
50	chr19:36611273-36611323	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36601583..36604210-chr19:36609754..36611847,2	MCF-7	breast:
2	chr19:36604785..36608680-chr19:36610341..36613498,5	K562	blood:

No data

Variant related genes	Relation type
TBCB	TF binding region
TBCB	CpG island
ENSG00000105258	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000105254	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1003470	0.83[YRI][hapmap]
rs10407011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414877	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10420353	0.96[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10421966	0.96[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10423651	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10425692	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12462432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12462632	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12462674	0.96[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972490	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12972660	0.87[ASN][1000 genomes]
rs12976505	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12976812	0.85[CEU][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs12977802	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12977814	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12978482	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12981654	0.91[CEU][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1548505	0.82[YRI][hapmap]
rs17639286	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2023865	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2072606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2075474	1.00[ASN][1000 genomes]
rs2301736	0.82[YRI][hapmap]
rs35125548	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35875194	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3810445	0.85[JPT][hapmap]
rs3826995	0.96[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4461192	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4806279	0.87[ASN][1000 genomes]
rs4806280	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs71337524	0.82[EUR][1000 genomes]
rs721542	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7245762	0.95[JPT][hapmap]
rs7246292	0.82[YRI][hapmap]
rs7257383	0.95[JPT][hapmap]
rs7259592	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7260609	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8100250	0.91[ASN][1000 genomes]
rs8103569	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36612200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36607200-36612200	Weak transcription	Aorta	Aorta
3	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
4	chr19:36607400-36612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36607400-36612800	Weak transcription	HSMMtube	muscle
6	chr19:36607400-36613800	Weak transcription	HSMM	muscle
7	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
8	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
10	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
12	chr19:36607600-36612000	Genic enhancers	Brain Inferior Temporal Lobe	brain
13	chr19:36607600-36612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:36607600-36612400	Strong transcription	NHEK	skin
15	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
16	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
17	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
18	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
20	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
21	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:36607600-36617000	Strong transcription	Osteobl	bone
23	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
26	chr19:36607600-36618400	Weak transcription	K562	blood
27	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:36608000-36611600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:36608000-36613200	Strong transcription	Fetal Thymus	thymus
30	chr19:36608000-36616800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:36608000-36617000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr19:36608000-36617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:36608000-36617000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:36608000-36617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:36608000-36617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:36608000-36617200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:36608000-36617200	Strong transcription	Adipose Nuclei	Adipose
40	chr19:36608000-36617200	Strong transcription	Spleen	Spleen
41	chr19:36608000-36617200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:36608000-36617800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:36608000-36618000	Strong transcription	Fetal Stomach	stomach
44	chr19:36608200-36615800	Weak transcription	Hela-S3	cervix
45	chr19:36608200-36617000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:36608200-36617000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:36608200-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:36608200-36617200	Strong transcription	A549	lung
49	chr19:36608200-36618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:36608400-36612800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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