Variant report

Variant	rs7251610
Chromosome Location	chr19:18489734-18489735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:18489586-18490103	IMR90	lung:	n/a	n/a
2	CEBPB	chr19:18489605-18489863	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr19:18488905-18489998	K562	blood:	n/a	n/a
4	YY1	chr19:18489658-18489884	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18482254..18486316-chr19:18487769..18490915,4	MCF-7	breast:
2	chr19:18474398..18477228-chr19:18489482..18491210,2	MCF-7	breast:
3	chr19:18487658..18490624-chr19:18548035..18550250,2	MCF-7	breast:

Variant related genes	Relation type
GDF15	TF binding region
ENSG00000130513	Chromatin interaction
ENSG00000105655	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1055150	0.87[ASN][1000 genomes]
rs1059519	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12459566	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12459782	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2059039	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3787023	0.89[ASN][1000 genomes]
rs3848646	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3848647	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3848648	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3848649	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4328570	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808128	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808789	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808792	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808793	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808794	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55947999	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56033872	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6512262	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6512263	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6512264	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6512265	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6512266	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8101804	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107264	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18483600-18491000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:18485200-18490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:18485200-18491200	Weak transcription	Psoas Muscle	Psoas
4	chr19:18485400-18490200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:18485600-18490800	Weak transcription	Right Atrium	heart
6	chr19:18485800-18489800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:18485800-18489800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr19:18485800-18490800	Weak transcription	Adipose Nuclei	Adipose
9	chr19:18485800-18490800	Weak transcription	NH-A	brain
10	chr19:18485800-18490800	Weak transcription	NHDF-Ad	bronchial
11	chr19:18485800-18491000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:18485800-18491000	Enhancers	HepG2	liver
13	chr19:18485800-18491200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:18485800-18491200	Weak transcription	Fetal Heart	heart
15	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:18486000-18490800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:18486000-18490800	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:18486000-18490800	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:18486000-18490800	Weak transcription	Fetal Thymus	thymus
21	chr19:18486000-18490800	Weak transcription	Stomach Mucosa	stomach
22	chr19:18486000-18490800	Enhancers	Hela-S3	cervix
23	chr19:18486000-18491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:18486000-18491000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:18486000-18491000	Weak transcription	Brain Substantia Nigra	brain
26	chr19:18486000-18491200	Weak transcription	Left Ventricle	heart
27	chr19:18486200-18490800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18486200-18490800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:18486200-18491000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:18486200-18491200	Weak transcription	Lung	lung
31	chr19:18486400-18490800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:18486400-18496600	Weak transcription	Fetal Kidney	kidney
33	chr19:18486600-18490800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:18486600-18491000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:18486600-18491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:18487000-18490800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:18487400-18492000	Enhancers	Liver	Liver
38	chr19:18487800-18491400	Enhancers	A549	lung
39	chr19:18488000-18490400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:18488000-18490800	Enhancers	K562	blood
41	chr19:18488200-18490200	Enhancers	Pancreas	Pancrea
42	chr19:18488200-18490800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:18488600-18490200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr19:18488600-18492200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:18488600-18496800	Enhancers	Placenta	Placenta
46	chr19:18488800-18490800	Weak transcription	Aorta	Aorta
47	chr19:18488800-18490800	Weak transcription	Fetal Intestine Large	intestine
48	chr19:18488800-18490800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:18489000-18489800	Enhancers	HUVEC	blood vessel
50	chr19:18489000-18489800	Enhancers	NHLF	lung

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