Variant report

Variant	rs533627434
Chromosome Location	chr5:114970396-114970397
allele	A/C
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	TCF7L2	chr5:114970084-114970745	Hela-S3	cervix:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
2	RAD21	chr5:114970350-114970777	Hela-S3	cervix:	n/a	chr5:114970571-114970590
3	SMC3	chr5:114970317-114970746	HepG2	liver:	n/a	n/a
4	EP300	chr5:114970040-114970646	GM12878	blood:	n/a	n/a
5	RAD21	chr5:114970351-114970775	HepG2	liver:	n/a	chr5:114970571-114970590
6	POU5F1	chr5:114970314-114970701	H1-hESC	embryonic stem cell:	n/a	chr5:114970517-114970526 chr5:114970515-114970526 chr5:114970472-114970486
7	TCF7L2	chr5:114970010-114970729	HEK293	kidney:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
8	GTF2F1	chr5:114970335-114970659	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr5:114970356-114970729	K562	blood:	n/a	n/a
10	NFATC1	chr5:114969944-114970690	GM12878	blood:	n/a	n/a
11	CTCF	chr5:114970388-114970718	Spleen_OC	spleen:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
12	YY1	chr5:114970357-114970649	GM12878	blood:	n/a	n/a
13	IRF4	chr5:114969986-114970633	GM12878	blood:	n/a	chr5:114970185-114970199 chr5:114970200-114970214
14	SMC3	chr5:114970381-114970743	K562	blood:	n/a	n/a
15	RAD21	chr5:114970373-114970720	SK-N-SH_RA	brain:	n/a	chr5:114970571-114970590
16	MAX	chr5:114970233-114970658	NB4	blood:	n/a	n/a
17	CTCF	chr5:114970279-114970728	HCT-116	colon:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
18	CTCF	chr5:114970139-114970767	K562	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
19	MAZ	chr5:114970373-114970697	HepG2	liver:	n/a	n/a
20	MBD4	chr5:114970322-114970687	HepG2	liver:	n/a	n/a
21	MTA3	chr5:114970073-114970684	GM12878	blood:	n/a	n/a
22	MYBL2	chr5:114970256-114970704	HepG2	liver:	n/a	n/a
23	CTCF	chr5:114969971-114970764	A549	lung:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
24	FOXM1	chr5:114969984-114970744	GM12878	blood:	n/a	n/a
25	CTCF	chr5:114970227-114970748	HCT-116	colon:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
26	CTCF	chr5:114970377-114970715	H1-hESC	embryonic stem cell:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
27	IRF4	chr5:114970017-114970636	GM12878	blood:	n/a	chr5:114970185-114970199 chr5:114970200-114970214
28	CTCF	chr5:114970340-114970778	GM12878	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
29	POLR2A	chr5:114970343-114970649	HCT-116	colon:	n/a	n/a
30	PAX5	chr5:114970196-114970634	GM12892	blood:	n/a	chr5:114970484-114970502 chr5:114970483-114970502 chr5:114970202-114970211
31	EP300	chr5:114970123-114970598	GM12878	blood:	n/a	n/a
32	BATF	chr5:114970306-114970646	GM12878	blood:	n/a	n/a
33	CTCF	chr5:114970357-114970686	A549	lung:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
34	YY1	chr5:114970288-114970681	HepG2	liver:	n/a	n/a
35	HEY1	chr5:114970247-114970663	HepG2	liver:	n/a	n/a
36	EBF1	chr5:114969981-114970630	GM12878	blood:	n/a	n/a
37	YY1	chr5:114970384-114970659	GM12878	blood:	n/a	n/a
38	ELK1	chr5:114970214-114970687	GM12878	blood:	n/a	n/a
39	MAX	chr5:114970321-114970715	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr5:114970199-114970578	HepG2	liver:	n/a	n/a
41	FOS	chr5:114970395-114970644	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr5:114970296-114970719	A549	lung:	n/a	chr5:114970571-114970590
43	RAD21	chr5:114970246-114970725	HCT-116	colon:	n/a	chr5:114970571-114970590
44	BATF	chr5:114970369-114970661	GM12878	blood:	n/a	n/a
45	RAD21	chr5:114970122-114970778	IMR90	lung:	n/a	chr5:114970571-114970590
46	RAD21	chr5:114970371-114970683	GM12878	blood:	n/a	chr5:114970571-114970590
47	FAM48A	chr5:114970171-114970397	GM12878	blood:	n/a	n/a
48	STAT5A	chr5:114969994-114970693	GM12878	blood:	n/a	chr5:114970186-114970197
49	TBL1XR1	chr5:114970274-114970637	K562	blood:	n/a	n/a
50	MAX	chr5:114970351-114970684	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114970131..114970716-chr5:115166661..115167300,2	MCF-7	breast:
2	chr5:114970091..114970643-chr5:115403493..115404412,2	MCF-7	breast:
3	chr5:114970139..114971046-chr5:115166737..115167536,2	K562	blood:
4	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
5	chr5:114970097..114971014-chr5:115166622..115167477,4	MCF-7	breast:
6	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
7	chr5:114969969..114970967-chr5:115174408..115175088,5	MCF-7	breast:
8	chr5:114968611..114971610-chr5:115175867..115178509,3	MCF-7	breast:

Variant related genes	Relation type
TMED7	TF binding region
ENSG00000177879	Chromatin interaction
ENSG00000145782	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3348155	chr5:114968703-114970801	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3369833	chr5:114969653-114971951	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114969000-114970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:114969000-114970600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:114969200-114970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:114969800-114970400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:114969800-114970400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:114969800-114970400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:114969800-114970400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:114969800-114970400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr5:114969800-114970400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:114969800-114970400	Flanking Active TSS	Liver	Liver
12	chr5:114969800-114970400	Flanking Active TSS	GM12878-XiMat	blood
13	chr5:114969800-114970600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:114969800-114970600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:114969800-114970600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:114969800-114970600	Active TSS	Stomach Smooth Muscle	stomach
17	chr5:114969800-114970600	Flanking Active TSS	Dnd41	blood
18	chr5:114969800-114970600	Active TSS	HepG2	liver
19	chr5:114969800-114970600	Active TSS	NHDF-Ad	bronchial
20	chr5:114970000-114970400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:114970000-114970400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:114970000-114970400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:114970000-114970400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr5:114970000-114970400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:114970000-114970400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:114970000-114970400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:114970000-114970400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr5:114970000-114970400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:114970000-114970400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:114970000-114970400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:114970000-114970400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:114970000-114970400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:114970000-114970400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr5:114970000-114970400	Active TSS	Aorta	Aorta
35	chr5:114970000-114970400	Active TSS	Brain Germinal Matrix	brain
36	chr5:114970000-114970400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr5:114970000-114970400	Flanking Active TSS	A549	lung
38	chr5:114970000-114970400	Flanking Active TSS	K562	blood
39	chr5:114970000-114970400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:114970000-114970400	Flanking Active TSS	NHEK	skin
41	chr5:114970000-114970600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:114970000-114970600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:114970000-114970600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:114970000-114970600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:114970000-114970600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr5:114970000-114970600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:114970000-114970600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:114970000-114970600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr5:114970000-114970600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr5:114970000-114970600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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