Variant report

Variant	rs60510653
Chromosome Location	chr17:18267564-18267565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18267519-18267569	HNPCEpiC	eye:	n/a
2	chr17:18267519-18267569	HMEC	breast:	n/a
3	chr17:18267519-18267569	HCF	heart:	n/a
4	chr17:18267519-18267569	PANC-1	pancreas:	n/a
5	chr17:18267519-18267569	NH-A	brain:	n/a
6	chr17:18267519-18267569	GM06990	blood:	n/a
7	chr17:18267519-18267569	Hepatocyte	liver:	n/a
8	chr17:18267519-18267569	HEK293	kidney:	embryo
9	chr17:18267519-18267569	HepG2	liver:	n/a
10	chr17:18267519-18267569	PrEC	prostate:	n/a
11	chr17:18267519-18267569	AoSMC	blood vessel:	n/a
12	chr17:18267519-18267569	MCF10A-Er-Src	breast:	n/a
13	chr17:18267519-18267569	K562	blood:	n/a
14	chr17:18267519-18267569	AG09319	gingival:	n/a
15	chr17:18267519-18267569	SK-N-SH	brain:	n/a
16	chr17:18267519-18267569	IMR90	lung:	fetal
17	chr17:18267519-18267569	HAEpiC	amniotic membrane:	n/a
18	chr17:18267519-18267569	GM12878	blood:	n/a
19	chr17:18267519-18267569	HUVEC	blood vessel:	n/a
20	chr17:18267519-18267569	CMK	blood:	n/a
21	chr17:18267519-18267569	SKMC	muscle:	n/a
22	chr17:18267519-18267569	HPAEpiC	pulmonary alveolar:	n/a
23	chr17:18267519-18267569	GM19239	blood:	n/a
24	chr17:18267519-18267569	MCF-7	breast:	n/a
25	chr17:18267519-18267569	GM12892	blood:	n/a
26	chr17:18267519-18267569	Caco-2	colon:	n/a
27	chr17:18267519-18267569	LNCaP	prostate:	n/a
28	chr17:18267519-18267569	BE2_C	brain:	n/a
29	chr17:18267519-18267569	HRE	kidney:	n/a
30	chr17:18267519-18267569	U87	brain:	n/a
31	chr17:18267519-18267569	SK-N-SH_RA	brain:	n/a
32	chr17:18267519-18267569	HCPEpiC	choroid plexus:	n/a
33	chr17:18267519-18267569	HL-60	blood:	n/a
34	chr17:18267519-18267569	GM12891	blood:	n/a
35	chr17:18267519-18267569	NB4	blood:	n/a
36	chr17:18267519-18267569	AG10803	skin:	n/a
37	chr17:18267519-18267569	HEEpiC	esophagus:	n/a
38	chr17:18267519-18267569	HRPEpiC	eye:	n/a
39	chr17:18267519-18267569	H1-hESC	embryonic stem cell:	embryo
40	chr17:18267519-18267569	A549	lung:	n/a
41	chr17:18267519-18267569	AG04449	skin:	fetal
42	chr17:18267519-18267569	RPTEC	kidney:	n/a
43	chr17:18267519-18267569	BJ	skin:	n/a
44	chr17:18267519-18267569	T-47D	breast:	n/a
45	chr17:18267519-18267569	NHBE	bronchial:	n/a
46	chr17:18267519-18267569	NHDF-neo	bronchial:	n/a
47	chr17:18267519-18267569	ProgFib	skin:	n/a
48	chr17:18267519-18267569	ECC-1	luminal epithelium:	n/a
49	chr17:18267519-18267569	HIPEpiC	eye:	n/a
50	chr17:18267519-18267569	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18267096..18271121-chr17:18271318..18274892,4	K562	blood:

No data

Variant related genes	Relation type
SHMT1	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs28694704	1.00[EUR][1000 genomes]
rs56109231	1.00[EUR][1000 genomes]
rs56180580	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56735648	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56793258	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58115308	1.00[EUR][1000 genomes]
rs58499955	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59738176	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59867698	1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60699593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60708953	1.00[EUR][1000 genomes]
rs60814048	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361031	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213789	1.00[EUR][1000 genomes]
rs7219191	1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288297	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288302	1.00[EUR][1000 genomes]
rs73289913	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064901	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071028	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071911	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910599	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
9	esv2758443	chr17:18234525-18446384	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
10	esv2758677	chr17:18234525-18446384	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
11	esv1829832	chr17:18235992-18405148	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
12	nsv827913	chr17:18253785-18572122	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1065708	chr17:18259174-18913343	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18265800-18267600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:18266200-18267600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr17:18267200-18267600	Enhancers	Primary B cells from cord blood	blood
4	chr17:18267200-18267600	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:18267200-18267600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr17:18267200-18267600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:18267200-18267600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:18267200-18267600	Enhancers	Duodenum Mucosa	Duodenum
9	chr17:18267200-18267600	Enhancers	Fetal Lung	lung
10	chr17:18267200-18267600	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:18267200-18267600	Enhancers	GM12878-XiMat	blood
12	chr17:18267200-18267600	Enhancers	HMEC	breast
13	chr17:18267200-18268000	Enhancers	Liver	Liver
14	chr17:18267200-18268000	Enhancers	Fetal Thymus	thymus
15	chr17:18267200-18271800	Weak transcription	Placenta	Placenta
16	chr17:18267200-18274600	Weak transcription	NHEK	skin
17	chr17:18267200-18288200	Weak transcription	Right Atrium	heart
18	chr17:18267400-18267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:18267400-18267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:18267400-18267600	Enhancers	Small Intestine	intestine
21	chr17:18267400-18267600	Enhancers	Dnd41	blood
22	chr17:18267400-18267600	Enhancers	K562	blood
23	chr17:18267400-18267800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:18267400-18267800	Flanking Active TSS	Thymus	Thymus
25	chr17:18267400-18274600	Weak transcription	Hela-S3	cervix
26	chr17:18267400-18277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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