Variant report

Variant	rs7254113
Chromosome Location	chr19:36392355-36392356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr19:36392246-36392400	HepG2	liver:	n/a	n/a
2	MYC	chr19:36392265-36392465	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:36392201-36392498	SK-N-SH	brain:	n/a	n/a
4	PRDM1	chr19:36392241-36392523	Hela-S3	cervix:	n/a	chr19:36392401-36392416
5	TEAD4	chr19:36392215-36392629	ECC-1	luminal epithelium:	n/a	n/a
6	PBX3	chr19:36391994-36392579	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr19:36392150-36392434	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr19:36392071-36392563	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr19:36392104-36392485	ECC-1	luminal epithelium:	n/a	n/a
10	MTA3	chr19:36391934-36392600	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:36392354-36392366	ProgFib	skin:	n/a	n/a
12	TCF12	chr19:36391975-36392699	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36390580..36392436-chr19:36485968..36488161,2	K562	blood:
2	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:
3	chr19:36361275..36362791-chr19:36390518..36392697,2	K562	blood:
4	chr19:36390133..36392611-chr19:36392789..36396319,5	MCF-7	breast:
5	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBID	TF binding region
HCST	TF binding region
ENSG00000126264	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000011600	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11878547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880785	1.00[MEX][hapmap]
rs1268319	1.00[MEX][hapmap]
rs16960862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173033	0.83[ASN][1000 genomes]
rs17549166	0.83[EUR][1000 genomes]
rs1802029	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230260	0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs230261	1.00[MEX][hapmap]
rs33964243	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761086	1.00[CEU][hapmap]
rs376240	0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs56264349	0.83[ASN][1000 genomes]
rs58422001	0.91[ASN][1000 genomes]
rs7245383	1.00[CEU][hapmap]
rs7247769	1.00[CEU][hapmap]
rs7251744	0.90[ASN][1000 genomes]
rs7251879	0.90[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7252902	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256952	1.00[CEU][hapmap]
rs7258154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258214	0.90[ASN][1000 genomes]
rs7258909	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8101472	1.00[CEU][hapmap]
rs8103718	1.00[CEU][hapmap]
rs8105153	0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8108459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8111740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8113704	0.81[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs879407	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36390000-36392600	Active TSS	Colonic Mucosa	Colon
2	chr19:36390800-36395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36391000-36395000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr19:36391400-36392400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:36391600-36392400	Enhancers	Fetal Heart	heart
6	chr19:36391600-36392600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:36391600-36393000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:36391600-36393200	Weak transcription	Esophagus	oesophagus
9	chr19:36391600-36393200	Weak transcription	Lung	lung
10	chr19:36391600-36394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:36391600-36394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:36391600-36394400	Weak transcription	Gastric	stomach
13	chr19:36391600-36394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:36391600-36394400	Enhancers	HMEC	breast
15	chr19:36391600-36394600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr19:36391600-36395000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:36391600-36395000	Flanking Active TSS	Fetal Thymus	thymus
18	chr19:36391600-36395000	Enhancers	Spleen	Spleen
19	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
20	chr19:36391800-36392400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:36391800-36392400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr19:36391800-36392400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr19:36391800-36392400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr19:36391800-36392600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:36391800-36392600	Enhancers	HSMM	muscle
26	chr19:36391800-36392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:36391800-36392800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:36391800-36392800	Weak transcription	Brain Anterior Caudate	brain
29	chr19:36391800-36392800	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:36391800-36393000	Weak transcription	Liver	Liver
31	chr19:36391800-36393000	Flanking Active TSS	Osteobl	bone
32	chr19:36391800-36393200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:36391800-36393200	Flanking Active TSS	Thymus	Thymus
34	chr19:36391800-36393400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:36391800-36393400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:36391800-36393400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:36391800-36393400	Weak transcription	Pancreas	Pancrea
38	chr19:36391800-36393400	Weak transcription	Right Ventricle	heart
39	chr19:36391800-36393600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr19:36391800-36393600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:36391800-36393800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:36391800-36394000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr19:36391800-36394000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:36391800-36394200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr19:36391800-36394200	Enhancers	K562	blood
46	chr19:36391800-36394200	Enhancers	NHEK	skin
47	chr19:36391800-36394400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:36391800-36395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:36391800-36395000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:36391800-36395200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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