Variant report

Variant	rs60852665
Chromosome Location	chr5:36602918-36602919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:36602742-36603349	HCT-116	colon:	n/a	n/a
2	CTCF	chr5:36602893-36603103	GM10266	blood:	n/a	n/a
3	CTCF	chr5:36602900-36603050	AG04449	skin:	n/a	n/a
4	CTCF	chr5:36602900-36603050	HRPEpiC	eye:	n/a	n/a
5	RAD21	chr5:36602892-36603167	GM12878	blood:	n/a	n/a
6	CTCF	chr5:36602880-36603030	HBMEC	blood vessel:	n/a	n/a
7	ZNF143	chr5:36602851-36603177	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:36602900-36603050	GM12870	blood:	n/a	n/a
9	CTCF	chr5:36602746-36603386	HCT-116	colon:	n/a	n/a
10	CTCF	chr5:36602880-36603030	RPTEC	kidney:	n/a	n/a
11	CTCF	chr5:36602835-36603080	K562	blood:	n/a	n/a
12	CTCF	chr5:36602864-36603267	MCF-7	breast:	n/a	n/a
13	RAD21	chr5:36602705-36603345	MCF-7	breast:	n/a	n/a
14	RAD21	chr5:36602841-36603088	GM12878	blood:	n/a	n/a
15	CTCF	chr5:36602918-36603098	K562	blood:	n/a	n/a
16	CTCF	chr5:36602900-36603050	GM12872	blood:	n/a	n/a
17	RAD21	chr5:36602877-36603118	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr5:36602860-36603010	HepG2	liver:	n/a	n/a
19	CTCF	chr5:36602903-36603110	MCF-7	breast:	n/a	n/a
20	SMC3	chr5:36602897-36603128	GM12878	blood:	n/a	n/a
21	CTCF	chr5:36602860-36603010	HPAF	blood vessel:	n/a	n/a
22	RAD21	chr5:36602890-36603138	HepG2	liver:	n/a	n/a
23	CTCF	chr5:36602900-36603050	GM12864	blood:	n/a	n/a
24	CTCF	chr5:36602875-36603123	GM19238	blood:	n/a	n/a
25	MAX	chr5:36602897-36603399	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr5:36602880-36603030	GM12868	blood:	n/a	n/a
27	MAX	chr5:36602771-36603209	NB4	blood:	n/a	chr5:36602807-36602816 chr5:36602807-36602816 chr5:36602807-36602816
28	CTCF	chr5:36602900-36603115	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:36602880-36603030	NB4	blood:	n/a	n/a
30	CTCF	chr5:36602840-36602990	HCM	heart:	n/a	n/a
31	RAD21	chr5:36602732-36603226	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr5:36602900-36603050	HAc	cerebellar:	n/a	n/a
33	CTCF	chr5:36602891-36603124	GM12891	blood:	n/a	n/a
34	CTCF	chr5:36602894-36603071	HepG2	liver:	n/a	n/a
35	RAD21	chr5:36602704-36603472	HCT-116	colon:	n/a	n/a
36	RAD21	chr5:36602909-36603164	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr5:36602900-36603050	HMF	breast:	n/a	n/a
38	RAD21	chr5:36602834-36603164	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:36602900-36603050	GM12873	blood:	n/a	n/a
40	RAD21	chr5:36602914-36603137	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr5:36602902-36603079	GM10248	blood:	n/a	n/a
42	CTCF	chr5:36602880-36603030	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr5:36602900-36603050	GM12874	blood:	n/a	n/a
44	CTCF	chr5:36602902-36603115	GM19240	blood:	n/a	n/a
45	CTCF	chr5:36602800-36602950	GM12867	blood:	n/a	n/a
46	CTCF	chr5:36602910-36603097	GM12892	blood:	n/a	n/a
47	CTCF	chr5:36602900-36603050	GM12871	blood:	n/a	n/a
48	CTCF	chr5:36602900-36603050	RPTEC	kidney:	n/a	n/a
49	CTCF	chr5:36602836-36603198	GM12878	blood:	n/a	n/a
50	CTCF	chr5:36602901-36603107	NHEK	skin:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36602570..36603716-chr5:36690159..36691138,5	MCF-7	breast:
2	chr5:36602536..36603410-chr5:36692728..36693815,5	MCF-7	breast:
3	chr5:36602557..36603415-chr5:36695863..36696651,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC1A3	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11954566	1.00[AMR][1000 genomes]
rs16903262	1.00[AMR][1000 genomes]
rs58556892	1.00[AMR][1000 genomes]
rs59457338	1.00[AMR][1000 genomes]
rs60250007	1.00[AMR][1000 genomes]
rs60856949	1.00[AMR][1000 genomes]
rs6861244	1.00[AMR][1000 genomes]
rs73089639	1.00[AMR][1000 genomes]
rs73089649	1.00[AMR][1000 genomes]
rs73089650	1.00[AMR][1000 genomes]
rs73089652	1.00[AMR][1000 genomes]
rs73089653	1.00[AMR][1000 genomes]
rs73089661	1.00[AMR][1000 genomes]
rs73089669	1.00[AMR][1000 genomes]
rs73089699	1.00[AMR][1000 genomes]
rs73089701	1.00[AMR][1000 genomes]
rs73091531	1.00[AMR][1000 genomes]
rs7703416	1.00[AMR][1000 genomes]
rs7703852	1.00[AMR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36597000-36603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:36597000-36605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:36597200-36605200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:36598200-36603000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:36598200-36603000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:36598400-36603000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:36598400-36603200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:36598400-36604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:36600000-36604200	Enhancers	Brain Angular Gyrus	brain
12	chr5:36600000-36605600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:36600200-36605600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:36600200-36606000	Enhancers	Brain Substantia Nigra	brain
15	chr5:36600800-36603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:36601000-36604600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:36601000-36605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:36601000-36605800	Weak transcription	Adipose Nuclei	Adipose
19	chr5:36601200-36605400	Weak transcription	NHEK	skin
20	chr5:36601200-36605600	Weak transcription	HMEC	breast
21	chr5:36601200-36605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:36601200-36606000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:36601400-36605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:36601600-36604800	Weak transcription	NHDF-Ad	bronchial
25	chr5:36601800-36604200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:36601800-36605200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:36601800-36605200	Enhancers	Brain Hippocampus Middle	brain
28	chr5:36601800-36605800	Weak transcription	Fetal Stomach	stomach
29	chr5:36601800-36606000	Weak transcription	NHLF	lung
30	chr5:36602000-36606200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:36602200-36603200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:36602200-36605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:36602200-36605800	Weak transcription	Fetal Brain Female	brain
34	chr5:36602200-36606200	Weak transcription	Pancreas	Pancrea
35	chr5:36602600-36603200	Weak transcription	HSMM	muscle
36	chr5:36602600-36604600	Enhancers	Brain Anterior Caudate	brain
37	chr5:36602800-36603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:36602800-36603600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:36602800-36603600	Enhancers	Left Ventricle	heart
40	chr5:36602800-36603800	Enhancers	Brain Cingulate Gyrus	brain

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