Variant report

Variant	rs536989092
Chromosome Location	chr5:114970093-114970094
allele	C/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	TCF7L2	chr5:114970084-114970745	Hela-S3	cervix:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
2	EP300	chr5:114970040-114970646	GM12878	blood:	n/a	n/a
3	TCF7L2	chr5:114970010-114970729	HEK293	kidney:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
4	BCL11A	chr5:114970031-114970306	GM12878	blood:	n/a	chr5:114970188-114970197 chr5:114970202-114970211
5	NFATC1	chr5:114969944-114970690	GM12878	blood:	n/a	n/a
6	IRF4	chr5:114969986-114970633	GM12878	blood:	n/a	chr5:114970185-114970199 chr5:114970200-114970214
7	MTA3	chr5:114970073-114970684	GM12878	blood:	n/a	n/a
8	CTCF	chr5:114969971-114970764	A549	lung:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
9	FOXM1	chr5:114969984-114970744	GM12878	blood:	n/a	n/a
10	IRF4	chr5:114970017-114970636	GM12878	blood:	n/a	chr5:114970185-114970199 chr5:114970200-114970214
11	EBF1	chr5:114969981-114970630	GM12878	blood:	n/a	n/a
12	PAX5	chr5:114970009-114970313	GM12878	blood:	n/a	chr5:114970188-114970197 chr5:114970202-114970211
13	STAT5A	chr5:114969994-114970693	GM12878	blood:	n/a	chr5:114970186-114970197
14	RUNX3	chr5:114969847-114970715	GM12878	blood:	n/a	chr5:114970493-114970508
15	ZNF143	chr5:114970073-114970729	K562	blood:	n/a	n/a
16	RAD21	chr5:114970088-114970723	HCT-116	colon:	n/a	chr5:114970571-114970590
17	IKZF1	chr5:114969980-114970653	GM12878	blood:	n/a	n/a
18	NFIC	chr5:114969909-114970691	GM12878	blood:	n/a	n/a
19	TCF7L2	chr5:114970083-114970730	PANC-1	pancreas:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
20	SMC3	chr5:114970063-114970734	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr5:114969792-114970775	SK-N-SH	brain:	n/a	chr5:114970571-114970590
22	PAX5	chr5:114970037-114970639	GM12878	blood:	n/a	chr5:114970484-114970502 chr5:114970483-114970502 chr5:114970188-114970197 chr5:114970202-114970211
23	BATF	chr5:114970016-114970282	GM12878	blood:	n/a	n/a
24	CTCF	chr5:114969953-114970711	SK-N-SH	brain:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
25	EP300	chr5:114970050-114970659	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:114970005-114970684	GM12878	blood:	n/a	n/a
27	MTA3	chr5:114969836-114970691	GM12878	blood:	n/a	n/a
28	RCOR1	chr5:114970007-114970688	GM12878	blood:	n/a	n/a
29	FOXM1	chr5:114969956-114970830	GM12878	blood:	n/a	n/a
30	RUNX3	chr5:114969885-114970674	GM12878	blood:	n/a	chr5:114970493-114970508
31	STAT3	chr5:114970058-114970658	GM12878	blood:	n/a	chr5:114970186-114970197
32	NFIC	chr5:114969844-114970717	GM12878	blood:	n/a	n/a
33	PAX5	chr5:114969931-114970630	GM12891	blood:	n/a	chr5:114970484-114970502 chr5:114970483-114970502 chr5:114970188-114970197 chr5:114970202-114970211
34	ATF2	chr5:114969938-114970677	GM12878	blood:	n/a	n/a
35	PAX5	chr5:114969954-114970667	GM12878	blood:	n/a	chr5:114970484-114970502 chr5:114970483-114970502 chr5:114970188-114970197 chr5:114970202-114970211
36	PAX5	chr5:114970041-114970296	GM12878	blood:	n/a	chr5:114970188-114970197 chr5:114970202-114970211
37	RELA	chr5:114969980-114970726	GM19099	blood:	n/a	n/a
38	MAZ	chr5:114970068-114970727	GM12878	blood:	n/a	n/a
39	EBF1	chr5:114970045-114970292	GM12878	blood:	n/a	n/a
40	ATF2	chr5:114969993-114970666	GM12878	blood:	n/a	n/a
41	CUX1	chr5:114970000-114970621	GM12878	blood:	n/a	n/a
42	BCLAF1	chr5:114969941-114970664	GM12878	blood:	n/a	chr5:114970188-114970197 chr5:114970202-114970211
43	TBL1XR1	chr5:114970009-114970697	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114970091..114970643-chr5:115403493..115404412,2	MCF-7	breast:
2	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
3	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
4	chr5:114969969..114970967-chr5:115174408..115175088,5	MCF-7	breast:
5	chr5:114968611..114971610-chr5:115175867..115178509,3	MCF-7	breast:

Variant related genes	Relation type
TMED7	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000177879	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	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	esv5929	chr5:114969148-114970096	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114968600-114970200	Weak transcription	Psoas Muscle	Psoas
3	chr5:114969000-114970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:114969000-114970600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:114969200-114970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:114969800-114970200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:114969800-114970200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:114969800-114970200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:114969800-114970200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:114969800-114970200	Flanking Active TSS	NHLF	lung
11	chr5:114969800-114970200	Flanking Active TSS	Osteobl	bone
12	chr5:114969800-114970400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:114969800-114970400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:114969800-114970400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:114969800-114970400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:114969800-114970400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr5:114969800-114970400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:114969800-114970400	Flanking Active TSS	Liver	Liver
19	chr5:114969800-114970400	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:114969800-114970600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:114969800-114970600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:114969800-114970600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:114969800-114970600	Active TSS	Stomach Smooth Muscle	stomach
24	chr5:114969800-114970600	Flanking Active TSS	Dnd41	blood
25	chr5:114969800-114970600	Active TSS	HepG2	liver
26	chr5:114969800-114970600	Active TSS	NHDF-Ad	bronchial
27	chr5:114970000-114970200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:114970000-114970200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:114970000-114970200	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:114970000-114970200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:114970000-114970200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:114970000-114970200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:114970000-114970200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:114970000-114970200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:114970000-114970200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr5:114970000-114970200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr5:114970000-114970200	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr5:114970000-114970200	Flanking Active TSS	Fetal Kidney	kidney
39	chr5:114970000-114970200	Weak transcription	Hela-S3	cervix
40	chr5:114970000-114970200	Active TSS	NH-A	brain
41	chr5:114970000-114970400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr5:114970000-114970400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:114970000-114970400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:114970000-114970400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr5:114970000-114970400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:114970000-114970400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr5:114970000-114970400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:114970000-114970400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:114970000-114970400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:114970000-114970400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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