Variant report

Variant	rs6885313
Chromosome Location	chr5:93953406-93953407
allele	G/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	GATA1	chr5:93953405-93955460	PBDE	blood:	n/a	n/a
2	POLR2A	chr5:93953217-93954636	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:93953276-93955130	Hela-S3	cervix:	n/a	n/a
4	BHLHE40	chr5:93953343-93954961	K562	blood:	n/a	chr5:93954717-93954733 chr5:93954686-93954702
5	GABPA	chr5:93953360-93955068	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr5:93951720-93956311	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:93953394-93955317	PBDE	blood:	n/a	n/a
8	MAZ	chr5:93953386-93953501	GM12878	blood:	n/a	n/a
9	HCFC1	chr5:93952805-93955249	Hela-S3	cervix:	n/a	n/a
10	NFYB	chr5:93953384-93954428	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr5:93953401-93955375	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr5:93953359-93955167	MCF-7	breast:	n/a	n/a
13	POLR2A	chr5:93953394-93953585	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr5:93953367-93954499	Hela-S3	cervix:	n/a	n/a
15	MAX	chr5:93953130-93955010	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr5:93953388-93955260	A549	lung:	n/a	n/a
17	CHD1	chr5:93953319-93955184	IMR90	lung:	n/a	n/a
18	MAZ	chr5:93953311-93955077	IMR90	lung:	n/a	n/a
19	MXI1	chr5:93953161-93955285	Hela-S3	cervix:	n/a	n/a
20	SREBP1	chr5:93953295-93955615	GM12878	blood:	n/a	chr5:93954587-93954598
21	SIN3A	chr5:93953380-93955151	H1-hESC	embryonic stem cell:	n/a	chr5:93954789-93954800
22	RFX5	chr5:93952954-93954596	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:93953396-93955065	GM12891	blood:	n/a	n/a
24	POLR2A	chr5:93951620-93955302	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr5:93952868-93955718	SK-N-SH	brain:	n/a	n/a
26	CEBPB	chr5:93953192-93955310	Hela-S3	cervix:	n/a	n/a
27	TBP	chr5:93953373-93954511	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:93953235-93955040	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr5:93953311-93954924	NB4	blood:	n/a	n/a
30	RCOR1	chr5:93953214-93955127	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62609119..62609748-chr5:93953385..93954209,2	Hela-S3	cervix:
2	chr17:58467919..58470665-chr5:93953000..93954883,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD32	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000170832	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6884691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716133	1.00[AMR][1000 genomes]
rs7731201	1.00[AMR][1000 genomes]
rs7735517	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93951000-93957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93951200-93955000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:93951800-93956200	Active TSS	Hela-S3	cervix
4	chr5:93952600-93954000	Active TSS	Brain Germinal Matrix	brain
5	chr5:93952600-93955600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:93952600-93955600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:93952600-93955800	Active TSS	Fetal Brain Female	brain
8	chr5:93952600-93955800	Active TSS	HMEC	breast
9	chr5:93952800-93955200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:93952800-93955400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:93952800-93955400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:93952800-93955600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:93952800-93955600	Active TSS	NHLF	lung
14	chr5:93952800-93955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:93952800-93956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:93953000-93953600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:93953000-93953600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:93953000-93953600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr5:93953000-93953600	Flanking Active TSS	Fetal Heart	heart
20	chr5:93953000-93953600	Flanking Active TSS	Fetal Lung	lung
21	chr5:93953000-93953600	Flanking Active TSS	Dnd41	blood
22	chr5:93953000-93953600	Flanking Active TSS	Osteobl	bone
23	chr5:93953000-93953800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr5:93953000-93953800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr5:93953000-93953800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:93953000-93953800	Flanking Active TSS	HUVEC	blood vessel
27	chr5:93953000-93953800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:93953000-93954000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:93953000-93954000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:93953000-93954400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:93953000-93954800	Active TSS	Primary T cells fromperipheralblood	blood
32	chr5:93953000-93954800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr5:93953000-93955000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:93953000-93955000	Active TSS	Fetal Muscle Leg	muscle
35	chr5:93953000-93955200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr5:93953000-93955200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:93953000-93955200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:93953000-93955400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:93953000-93955400	Active TSS	Brain Angular Gyrus	brain
40	chr5:93953000-93955400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:93953000-93955400	Active TSS	Right Atrium	heart
42	chr5:93953000-93955400	Active TSS	Right Ventricle	heart
43	chr5:93953000-93955600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:93953000-93955600	Active TSS	Fetal Intestine Small	intestine
45	chr5:93953000-93955800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:93953000-93956200	Active TSS	K562	blood
47	chr5:93953200-93953600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:93953200-93953600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr5:93953200-93953600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr5:93953200-93953600	Flanking Active TSS	Brain Substantia Nigra	brain

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