Variant report

Variant	rs113932382
Chromosome Location	chr5:114970698-114970699
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	CTCF	chr5:114970426-114970719	Medullo	brain:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
4	SMC3	chr5:114970317-114970746	HepG2	liver:	n/a	n/a
5	CTCF	chr5:114970415-114970705	GM19238	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
6	E2F4	chr5:114970419-114970701	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr5:114970351-114970775	HepG2	liver:	n/a	chr5:114970571-114970590
8	POU5F1	chr5:114970314-114970701	H1-hESC	embryonic stem cell:	n/a	chr5:114970517-114970526 chr5:114970515-114970526 chr5:114970472-114970486
9	TCF7L2	chr5:114970010-114970729	HEK293	kidney:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
10	CTCF	chr5:114970414-114970704	GM12878	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
11	CTCF	chr5:114970427-114970701	GM19240	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
12	MAZ	chr5:114970356-114970729	K562	blood:	n/a	n/a
13	CTCF	chr5:114970433-114970706	LNCaP	prostate:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
14	CTCF	chr5:114970431-114970707	Hela-S3	cervix:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
15	CTCF	chr5:114970580-114970730	HAc	cerebellar:	n/a	n/a
16	CTCF	chr5:114970388-114970718	Spleen_OC	spleen:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
17	SMC3	chr5:114970381-114970743	K562	blood:	n/a	n/a
18	CTCF	chr5:114970428-114970703	Pancreas_OC	pancreas:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
19	RAD21	chr5:114970373-114970720	SK-N-SH_RA	brain:	n/a	chr5:114970571-114970590
20	CTCF	chr5:114970279-114970728	HCT-116	colon:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
21	CTCF	chr5:114970139-114970767	K562	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
22	CTCF	chr5:114970419-114970707	Kidney_OC	kidney:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
23	MYBL2	chr5:114970256-114970704	HepG2	liver:	n/a	n/a
24	CTCF	chr5:114969971-114970764	A549	lung:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
25	FOXM1	chr5:114969984-114970744	GM12878	blood:	n/a	n/a
26	CTCF	chr5:114970227-114970748	HCT-116	colon:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
27	CTCF	chr5:114970377-114970715	H1-hESC	embryonic stem cell:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
28	CTCF	chr5:114970410-114970703	HUVEC	blood vessel:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
29	CTCF	chr5:114970340-114970778	GM12878	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
30	MAX	chr5:114970321-114970715	ECC-1	luminal epithelium:	n/a	n/a
31	RAD21	chr5:114970296-114970719	A549	lung:	n/a	chr5:114970571-114970590
32	RAD21	chr5:114970246-114970725	HCT-116	colon:	n/a	chr5:114970571-114970590
33	RAD21	chr5:114970122-114970778	IMR90	lung:	n/a	chr5:114970571-114970590
34	CTCF	chr5:114970422-114970700	H1-hESC	embryonic stem cell:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
35	RUNX3	chr5:114969847-114970715	GM12878	blood:	n/a	chr5:114970493-114970508
36	CTCF	chr5:114970322-114970718	MCF-7	breast:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
37	ZNF143	chr5:114970073-114970729	K562	blood:	n/a	n/a
38	RAD21	chr5:114970332-114970700	SK-N-SH_RA	brain:	n/a	chr5:114970571-114970590
39	RAD21	chr5:114970088-114970723	HCT-116	colon:	n/a	chr5:114970571-114970590
40	CTCF	chr5:114970411-114970711	K562	blood:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
41	RAD21	chr5:114970177-114970775	H1-hESC	embryonic stem cell:	n/a	chr5:114970571-114970590
42	ELF1	chr5:114970418-114970706	GM12878	blood:	n/a	n/a
43	TCF7L2	chr5:114970083-114970730	PANC-1	pancreas:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
44	SMC3	chr5:114970063-114970734	SK-N-SH	brain:	n/a	n/a
45	TCF7L2	chr5:114970316-114970752	HCT-116	colon:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
46	RAD21	chr5:114969792-114970775	SK-N-SH	brain:	n/a	chr5:114970571-114970590
47	TCF7L2	chr5:114970301-114970750	Hela-S3	cervix:	n/a	chr5:114970510-114970524 chr5:114970530-114970544
48	CTCF	chr5:114969953-114970711	SK-N-SH	brain:	n/a	chr5:114970573-114970586 chr5:114970570-114970588 chr5:114970571-114970587
49	JUND	chr5:114970096-114970715	K562	blood:	n/a	n/a
50	MAX	chr5:114970368-114970710	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114970131..114970716-chr5:115166661..115167300,2	MCF-7	breast:
2	chr5:114970519..114971056-chr5:115106117..115106819,2	MCF-7	breast:
3	chr5:114970518..114971324-chr5:115403283..115404403,4	K562	blood:
4	chr5:114970139..114971046-chr5:115166737..115167536,2	K562	blood:
5	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
6	chr5:114970607..114973250-chr5:114975290..114977621,2	K562	blood:
7	chr5:114970097..114971014-chr5:115166622..115167477,4	MCF-7	breast:
8	chr5:114970575..114971098-chr5:115174433..115174988,2	K562	blood:
9	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
10	chr5:114970470..114971000-chr5:115106287..115106794,2	MCF-7	breast:
11	chr5:114970607..114974645-chr5:114975238..114977621,3	K562	blood:
12	chr5:114969969..114970967-chr5:115174408..115175088,5	MCF-7	breast:
13	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
ENSG00000251118	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114970400-114971200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:114970400-114971200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:114970400-114972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:114970400-114972200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:114970400-114974000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:114970600-114970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:114970600-114970800	Weak transcription	HepG2	liver
9	chr5:114970600-114971200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:114970600-114971400	Enhancers	Dnd41	blood
11	chr5:114970600-114971600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:114970600-114971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:114970600-114971800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:114970600-114972200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:114970600-114972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:114970600-114972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:114970600-114972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:114970600-114973000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:114970600-114973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:114970600-114973400	Weak transcription	NHDF-Ad	bronchial
21	chr5:114970600-114974400	Weak transcription	Liver	Liver

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