Variant report

Variant	rs2053771
Chromosome Location	chr4:87858548-87858549
allele	A/G
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	TBL1XR1	chr4:87858356-87858562	K562	blood:	n/a	n/a
2	TCF7L2	chr4:87857502-87858596	HepG2	liver:	n/a	chr4:87857812-87857826 chr4:87857815-87857824
3	POLR2A	chr4:87854677-87858857	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr4:87858453-87858553	GM12878	blood:	n/a	n/a
5	ELK1	chr4:87858424-87858624	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87857968..87859669-chr4:87867267..87869680,2	MCF-7	breast:
2	chr4:87858518..87860018-chr4:87894461..87896898,2	K562	blood:
3	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
4	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
5	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
6	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
7	chr4:87858278..87859821-chr4:87918030..87920940,2	MCF-7	breast:

Variant related genes	Relation type
C4orf36	TF binding region
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10015639	0.95[EUR][1000 genomes]
rs1010902	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1010903	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10516785	0.81[ASN][1000 genomes]
rs10516786	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11097124	0.84[EUR][1000 genomes]
rs1447994	0.83[EUR][1000 genomes]
rs17012170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17012200	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012213	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17012216	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17751427	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17751557	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1985944	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4693153	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4693154	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4693795	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55698195	0.89[EUR][1000 genomes]
rs55831707	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55851914	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56201068	0.89[EUR][1000 genomes]
rs61651372	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6531941	0.95[EUR][1000 genomes]
rs72667703	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72667705	0.90[EUR][1000 genomes]
rs72667716	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72667721	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72667724	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72667727	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667735	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72667736	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72667737	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72667739	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72667741	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87854800-87858600	Active TSS	Right Ventricle	heart
2	chr4:87854800-87859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:87855000-87859000	Active TSS	Colonic Mucosa	Colon
4	chr4:87855000-87859000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:87855000-87859800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87855200-87858600	Active TSS	Stomach Mucosa	stomach
7	chr4:87855200-87859000	Active TSS	Fetal Intestine Large	intestine
8	chr4:87855200-87859200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:87855200-87859200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:87855200-87859800	Active TSS	GM12878-XiMat	blood
11	chr4:87855200-87859800	Active TSS	Hela-S3	cervix
12	chr4:87855400-87859000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87855400-87859200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:87855400-87859800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:87855400-87859800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:87855600-87858600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:87855600-87858600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:87855600-87858800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:87856200-87858600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr4:87856600-87861600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:87856800-87858600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:87856800-87858600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:87856800-87858800	Flanking Active TSS	HUVEC	blood vessel
24	chr4:87856800-87861400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:87857000-87859000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr4:87857200-87858600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:87857200-87858800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:87857200-87859000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr4:87857400-87858600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:87857400-87858600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr4:87857400-87859400	Active TSS	Thymus	Thymus
32	chr4:87857400-87860800	Weak transcription	Aorta	Aorta
33	chr4:87857400-87860800	Active TSS	Placenta	Placenta
34	chr4:87857400-87861600	Flanking Active TSS	Dnd41	blood
35	chr4:87857600-87858600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:87857600-87858600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:87857600-87858800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr4:87857600-87858800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:87857600-87860200	Weak transcription	HSMMtube	muscle
40	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
41	chr4:87857800-87858600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:87857800-87858600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:87857800-87858600	Active TSS	Fetal Stomach	stomach
44	chr4:87857800-87858600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:87857800-87858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:87857800-87858800	Flanking Active TSS	Liver	Liver
47	chr4:87857800-87858800	Active TSS	Small Intestine	intestine
48	chr4:87857800-87859200	Weak transcription	Lung	lung
49	chr4:87857800-87859400	Weak transcription	Pancreas	Pancrea
50	chr4:87857800-87860800	Weak transcription	Esophagus	oesophagus

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