Variant report

Variant	rs4869251
Chromosome Location	chr5:95162889-95162890
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	HNF4A	chr5:95162772-95163377	HepG2	liver:	n/a	chr5:95163102-95163117
2	ELF1	chr5:95162816-95163344	HepG2	liver:	n/a	n/a
3	BRCA1	chr5:95162861-95163241	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:95162835-95163353	HepG2	liver:	n/a	n/a
5	REST	chr5:95162824-95163323	HepG2	liver:	n/a	n/a
6	EP300	chr5:95162856-95163377	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:95162754-95163338	HepG2	liver:	n/a	n/a
8	EP300	chr5:95162845-95163357	HepG2	liver:	n/a	n/a
9	FOXA1	chr5:95162848-95163352	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:95162712-95163315	HepG2	liver:	n/a	n/a
11	MYBL2	chr5:95162703-95163436	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:95162889-95163130	HepG2	liver:	n/a	n/a
13	HNF4A	chr5:95162846-95163252	HepG2	liver:	n/a	chr5:95163102-95163117
14	CTCF	chr5:95162760-95162910	HepG2	liver:	n/a	n/a
15	NFIC	chr5:95162831-95163285	HepG2	liver:	n/a	n/a
16	MYBL2	chr5:95162586-95163414	HepG2	liver:	n/a	n/a
17	BHLHE40	chr5:95162863-95163372	HepG2	liver:	n/a	n/a
18	HEY1	chr5:95162670-95163357	HepG2	liver:	n/a	n/a
19	TEAD4	chr5:95162788-95163367	HepG2	liver:	n/a	n/a
20	GATA1	chr5:95162784-95163834	PBDE	blood:	n/a	n/a
21	HNF4G	chr5:95162790-95163418	HepG2	liver:	n/a	chr5:95163103-95163118
22	ARID3A	chr5:95162875-95163278	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:95162886-95163320	HepG2	liver:	n/a	n/a
24	HNF4A	chr5:95162724-95163328	HepG2	liver:	n/a	chr5:95163102-95163117
25	FOSL2	chr5:95162695-95163407	HepG2	liver:	n/a	n/a
26	NFIC	chr5:95162829-95163394	HepG2	liver:	n/a	n/a
27	SP1	chr5:95162798-95163401	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95160713..95163370-chr5:95164070..95166105,2	MCF-7	breast:
2	chr5:95162262..95164257-chr5:95169999..95171533,2	MCF-7	breast:
3	chr5:95156277..95158130-chr5:95161683..95164482,2	K562	blood:

Variant related genes	Relation type
GLRX	TF binding region
ENSG00000173221	Chromatin interaction
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10040697	0.85[CHB][hapmap]
rs12109442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109499	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12651950	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12658997	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17085159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs17085165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17085170	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17085193	1.00[YRI][hapmap]
rs17085209	0.80[YRI][hapmap]
rs17085255	1.00[ASW][hapmap]
rs2007	0.82[CHB][hapmap];0.89[YRI][hapmap]
rs2059210	1.00[YRI][hapmap]
rs2546193	0.85[CHB][hapmap]
rs3822751	0.95[CHB][hapmap]
rs59044001	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60682160	0.83[ASN][1000 genomes]
rs6556883	1.00[CHB][hapmap]
rs6888848	0.89[YRI][hapmap]
rs72656688	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7734301	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95158800-95164800	Enhancers	Fetal Intestine Large	intestine
2	chr5:95159800-95164800	Enhancers	Fetal Intestine Small	intestine
3	chr5:95159800-95169800	Weak transcription	Fetal Kidney	kidney
4	chr5:95160200-95164800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:95160200-95169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:95160600-95163200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:95160600-95163400	Weak transcription	Colonic Mucosa	Colon
8	chr5:95160600-95168800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:95160600-95170000	Weak transcription	Right Atrium	heart
10	chr5:95160600-95170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:95160800-95163000	Weak transcription	Lung	lung
12	chr5:95160800-95163000	Weak transcription	Right Ventricle	heart
13	chr5:95160800-95166400	Weak transcription	Gastric	stomach
14	chr5:95160800-95168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:95160800-95168200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:95160800-95168800	Weak transcription	Placenta	Placenta
17	chr5:95160800-95169000	Weak transcription	Psoas Muscle	Psoas
18	chr5:95160800-95169800	Weak transcription	Fetal Heart	heart
19	chr5:95160800-95169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:95161400-95163800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:95161400-95168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:95161600-95171400	Weak transcription	Small Intestine	intestine
23	chr5:95161800-95163000	Weak transcription	A549	lung
24	chr5:95161800-95163200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:95161800-95163600	Weak transcription	Dnd41	blood
26	chr5:95161800-95163800	Weak transcription	Spleen	Spleen
27	chr5:95161800-95164400	Weak transcription	Pancreas	Pancrea
28	chr5:95161800-95165000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:95161800-95165200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:95161800-95168000	Weak transcription	GM12878-XiMat	blood
31	chr5:95161800-95168800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:95161800-95169800	Weak transcription	Thymus	Thymus
33	chr5:95161800-95170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:95162000-95163000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:95162000-95163200	Weak transcription	Primary T cells from cord blood	blood
36	chr5:95162000-95168000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:95162000-95168200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:95162200-95163200	Weak transcription	Fetal Thymus	thymus
39	chr5:95162200-95164000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:95162400-95164600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr5:95162400-95168000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:95162400-95169600	Weak transcription	Hela-S3	cervix
43	chr5:95162600-95163000	Flanking Active TSS	Liver	Liver
44	chr5:95162600-95163400	Flanking Active TSS	HepG2	liver
45	chr5:95162600-95163600	Enhancers	K562	blood
46	chr5:95162600-95164400	Enhancers	Primary B cells from cord blood	blood
47	chr5:95162800-95163800	Enhancers	Adipose Nuclei	Adipose
48	chr5:95162800-95163800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr5:95162800-95164200	Enhancers	Stomach Mucosa	stomach
50	chr5:95162800-95164400	Enhancers	Rectal Mucosa Donor 29	rectum

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