Variant report

Variant	rs7735517
Chromosome Location	chr5:93955278-93955279
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	RCOR1	chr5:93954812-93955434	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:93951720-93956311	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr5:93953552-93955309	IMR90	lung:	n/a	n/a
5	POLR2A	chr5:93953394-93955317	PBDE	blood:	n/a	n/a
6	E2F4	chr5:93953437-93955419	MCF10A-Er-Src	breast:	n/a	chr5:93954357-93954368 chr5:93954804-93954813 chr5:93954359-93954367
7	GABPA	chr5:93953401-93955375	MCF-7	breast:	n/a	n/a
8	GATA2	chr5:93954742-93955332	HUVEC	blood vessel:	n/a	n/a
9	MXI1	chr5:93953161-93955285	Hela-S3	cervix:	n/a	n/a
10	SREBP1	chr5:93953295-93955615	GM12878	blood:	n/a	chr5:93954587-93954598
11	POLR2A	chr5:93951620-93955302	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr5:93952868-93955718	SK-N-SH	brain:	n/a	n/a
13	CEBPB	chr5:93953192-93955310	Hela-S3	cervix:	n/a	n/a
14	SREBP2	chr5:93953933-93955696	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93954931..93957124-chr5:93988357..93990518,2	K562	blood:
2	chr5:93954423..93956135-chr5:93981636..93983140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270133	TF binding region
KIAA0825	TF binding region

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]
rs6885313	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716133	1.00[AMR][1000 genomes]
rs7731201	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:113 , 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	chr5:93951800-93956200	Active TSS	Hela-S3	cervix
3	chr5:93952600-93955600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:93952600-93955600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:93952600-93955800	Active TSS	Fetal Brain Female	brain
6	chr5:93952600-93955800	Active TSS	HMEC	breast
7	chr5:93952800-93955400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:93952800-93955400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:93952800-93955600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:93952800-93955600	Active TSS	NHLF	lung
11	chr5:93952800-93955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:93952800-93956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:93953000-93955400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:93953000-93955400	Active TSS	Brain Angular Gyrus	brain
15	chr5:93953000-93955400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:93953000-93955400	Active TSS	Right Atrium	heart
17	chr5:93953000-93955400	Active TSS	Right Ventricle	heart
18	chr5:93953000-93955600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:93953000-93955600	Active TSS	Fetal Intestine Small	intestine
20	chr5:93953000-93955800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:93953000-93956200	Active TSS	K562	blood
22	chr5:93953200-93955400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr5:93953200-93955400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:93953200-93955400	Active TSS	Brain Anterior Caudate	brain
25	chr5:93953200-93955400	Active TSS	Fetal Intestine Large	intestine
26	chr5:93953200-93955400	Active TSS	Fetal Muscle Trunk	muscle
27	chr5:93953200-93955400	Active TSS	Ovary	ovary
28	chr5:93953200-93955600	Active TSS	Rectal Smooth Muscle	rectum
29	chr5:93953200-93955600	Active TSS	A549	lung
30	chr5:93953200-93955600	Active TSS	NHDF-Ad	bronchial
31	chr5:93953200-93955600	Active TSS	NHEK	skin
32	chr5:93953200-93955800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:93953400-93955400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:93953400-93955400	Active TSS	GM12878-XiMat	blood
35	chr5:93953400-93955600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:93953800-93955400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:93953800-93955600	Active TSS	Thymus	Thymus
38	chr5:93954400-93955400	Active TSS	Brain Germinal Matrix	brain
39	chr5:93954600-93955400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:93954600-93955400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:93954600-93955400	Active TSS	Fetal Brain Male	brain
42	chr5:93954800-93955400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:93954800-93955400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:93954800-93955600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:93954800-93955800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr5:93954800-93955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:93954800-93955800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:93955000-93955400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:93955000-93955400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:93955000-93955400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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