Variant report

Variant	rs60230535
Chromosome Location	chr5:114969185-114969186
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	CTCF	chr5:114969120-114969270	GM12872	blood:	n/a	n/a
2	MYC	chr5:114969131-114969309	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
2	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: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs56774716	1.00[AFR][1000 genomes]
rs57651143	1.00[AFR][1000 genomes]
rs57806423	1.00[AFR][1000 genomes]
rs58527582	0.90[AFR][1000 genomes]
rs58575550	1.00[AFR][1000 genomes]
rs58727668	0.90[AFR][1000 genomes]
rs59498080	1.00[AFR][1000 genomes]
rs60326995	1.00[AFR][1000 genomes]
rs6873889	0.90[AFR][1000 genomes]
rs73254573	0.90[AFR][1000 genomes]
rs73254575	0.90[AFR][1000 genomes]
rs73254578	0.90[AFR][1000 genomes]
rs73254582	0.90[AFR][1000 genomes]
rs73254585	0.90[AFR][1000 genomes]
rs73254587	0.90[AFR][1000 genomes]
rs73254592	0.90[AFR][1000 genomes]
rs73254595	0.90[AFR][1000 genomes]
rs73254599	0.90[AFR][1000 genomes]
rs73254601	0.82[AFR][1000 genomes]
rs73256603	0.82[AFR][1000 genomes]
rs73260535	0.90[AFR][1000 genomes]
rs73260536	0.90[AFR][1000 genomes]
rs73260539	0.95[AFR][1000 genomes]
rs73260540	1.00[AFR][1000 genomes]
rs73260542	1.00[AFR][1000 genomes]
rs73260543	1.00[AFR][1000 genomes]
rs73260545	1.00[AFR][1000 genomes]
rs73260548	1.00[AFR][1000 genomes]
rs73260552	1.00[AFR][1000 genomes]
rs73260555	1.00[AFR][1000 genomes]
rs73260556	1.00[AFR][1000 genomes]
rs73260562	1.00[AFR][1000 genomes]
rs73260563	1.00[AFR][1000 genomes]
rs73260565	1.00[AFR][1000 genomes]
rs73260567	1.00[AFR][1000 genomes]
rs73260572	1.00[AFR][1000 genomes]
rs73260574	1.00[AFR][1000 genomes]
rs73260579	1.00[AFR][1000 genomes]
rs73260580	1.00[AFR][1000 genomes]
rs73260583	1.00[AFR][1000 genomes]
rs73260584	1.00[AFR][1000 genomes]
rs73260585	1.00[AFR][1000 genomes]
rs73260586	1.00[AFR][1000 genomes]
rs73264716	1.00[AFR][1000 genomes]
rs73264723	1.00[AFR][1000 genomes]
rs73264732	1.00[AFR][1000 genomes]
rs73264737	0.87[AFR][1000 genomes]
rs73264754	0.87[AFR][1000 genomes]
rs73264767	0.87[AFR][1000 genomes]
rs7341161	1.00[AFR][1000 genomes]
rs7722595	1.00[AFR][1000 genomes]
rs7722614	0.91[AFR][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	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

No data

Chromatin state (count:46 , 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	chr5:114962600-114969600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:114962600-114969800	Weak transcription	HUVEC	blood vessel
4	chr5:114962600-114969800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:114962600-114970000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:114962800-114970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:114963000-114969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:114963000-114969800	Weak transcription	NHDF-Ad	bronchial
9	chr5:114963000-114970000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:114963000-114970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:114963200-114969800	Weak transcription	Primary T cells from cord blood	blood
12	chr5:114963200-114970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:114963200-114970000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:114963400-114969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:114963400-114970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:114963400-114970000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:114965400-114969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:114966200-114970000	Weak transcription	K562	blood
19	chr5:114967400-114969600	Weak transcription	NHLF	lung
20	chr5:114967400-114969800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:114967600-114969800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:114967800-114969800	Weak transcription	HMEC	breast
23	chr5:114967800-114970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:114968400-114969200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:114968400-114969200	Enhancers	Fetal Lung	lung
26	chr5:114968400-114969800	Enhancers	Liver	Liver
27	chr5:114968600-114969200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:114968600-114969800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:114968600-114969800	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:114968600-114970000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:114968600-114970200	Weak transcription	Psoas Muscle	Psoas
32	chr5:114968800-114969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:114968800-114969800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:114968800-114970000	Weak transcription	Fetal Brain Female	brain
35	chr5:114968800-114970000	Weak transcription	Fetal Intestine Large	intestine
36	chr5:114969000-114969200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:114969000-114969200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:114969000-114969200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:114969000-114969200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:114969000-114969200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:114969000-114969200	Enhancers	HepG2	liver
42	chr5:114969000-114969800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:114969000-114969800	Enhancers	Dnd41	blood
44	chr5:114969000-114969800	Enhancers	Osteobl	bone
45	chr5:114969000-114970600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:114969000-114970600	Active TSS	HUES48 Cell Line	embryonic stem cell

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