Variant report

Variant	rs11738227
Chromosome Location	chr5:93957739-93957740
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	STAT3	chr5:93957690-93958078	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr5:93957576-93957966	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr5:93957645-93957876	Hela-S3	cervix:	n/a	n/a
4	ARID3A	chr5:93957544-93957764	K562	blood:	n/a	n/a
5	POLR2A	chr5:93956795-93960610	Hela-S3	cervix:	n/a	n/a
6	JUN	chr5:93957365-93957756	K562	blood:	n/a	n/a
7	SIN3A	chr5:93957711-93957771	GM12878	blood:	n/a	n/a
8	ZNF384	chr5:93957434-93957917	GM12878	blood:	n/a	n/a
9	MXI1	chr5:93957474-93958206	Hela-S3	cervix:	n/a	n/a
10	ZNF384	chr5:93957307-93958140	K562	blood:	n/a	n/a
11	MAX	chr5:93957458-93957926	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:93956972-93958166	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:93957605-93957988	Hela-S3	cervix:	n/a	chr5:93957831-93957844
14	SMC3	chr5:93957452-93957802	Hela-S3	cervix:	n/a	n/a
15	BHLHE40	chr5:93957496-93957821	K562	blood:	n/a	n/a
16	USF2	chr5:93957452-93957798	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:93957051-93958058	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93952256..93955578-chr5:93956306..93958431,4	MCF-7	breast:
2	chr5:93952095..93956001-chr5:93957512..93961015,6	MCF-7	breast:

Variant related genes	Relation type
KIAA0825	TF binding region
ENSG00000270133	TF binding region
ENSG00000270133	Chromatin interaction
ENSG00000133302	Chromatin interaction
ENSG00000185261	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93962400	Weak transcription	Pancreas	Pancrea
2	chr5:93955000-93995400	Weak transcription	Gastric	stomach
3	chr5:93955200-93962400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:93955200-93966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:93955200-93966200	Weak transcription	Left Ventricle	heart
6	chr5:93955400-93962400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:93955400-93962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:93955400-93965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:93955400-93966000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:93955400-93966600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:93955400-93968400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:93955400-93973000	Weak transcription	Ovary	ovary
13	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:93955600-93957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:93955600-93958600	Weak transcription	NHLF	lung
16	chr5:93955600-93964600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:93955600-93964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:93955600-93964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:93955600-93965000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:93955600-93965200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:93955600-93965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:93955600-93966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:93955600-93966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:93955600-93966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:93955600-93966000	Weak transcription	Adipose Nuclei	Adipose
26	chr5:93955600-93966000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:93955600-93966000	Weak transcription	HSMM	muscle
28	chr5:93955600-93966400	Weak transcription	Brain Anterior Caudate	brain
29	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
30	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:93955800-93957800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:93955800-93958400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:93955800-93964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:93955800-93964600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:93955800-93964800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:93955800-93965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:93955800-93965400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:93955800-93965400	Weak transcription	Brain Germinal Matrix	brain
42	chr5:93955800-93965400	Weak transcription	Fetal Brain Female	brain
43	chr5:93955800-93965400	Weak transcription	Fetal Stomach	stomach
44	chr5:93955800-93966200	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:93955800-93966600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:93955800-93967400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:93955800-93969000	Weak transcription	Placenta	Placenta
48	chr5:93955800-93969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:93955800-93973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:93955800-93973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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