Variant report

Variant	rs73740276
Chromosome Location	chr6:27217857-27217858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
2	POLR2A	chr6:27217747-27220268	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27217857-27217907	AoSMC	blood vessel:	n/a
2	chr6:27217857-27217907	AG09309	skin:	n/a
3	chr6:27217857-27217907	AG10803	skin:	n/a
4	chr6:27217857-27217907	HCF	heart:	n/a
5	chr6:27217857-27217907	NH-A	brain:	n/a
6	chr6:27217857-27217907	Hela-S3	cervix:	n/a
7	chr6:27217857-27217907	NHBE	bronchial:	n/a
8	chr6:27217857-27217907	Jurkat	blood:	n/a
9	chr6:27217857-27217907	GM19239	blood:	n/a
10	chr6:27217857-27217907	HEEpiC	esophagus:	n/a
11	chr6:27217857-27217907	NB4	blood:	n/a
12	chr6:27217857-27217907	PFSK-1	brain:	n/a
13	chr6:27217857-27217907	A549	lung:	n/a
14	chr6:27217857-27217907	SK-N-MC	brain:	n/a
15	chr6:27217857-27217907	IMR90	lung:	fetal
16	chr6:27217857-27217907	LNCaP	prostate:	n/a
17	chr6:27217857-27217907	BJ	skin:	n/a
18	chr6:27217857-27217907	ECC-1	luminal epithelium:	n/a
19	chr6:27217857-27217907	PrEC	prostate:	n/a
20	chr6:27217857-27217907	NT2-D1	testis:	n/a
21	chr6:27217857-27217907	RPTEC	kidney:	n/a
22	chr6:27217857-27217907	MCF-7	breast:	n/a
23	chr6:27217857-27217907	HCT-116	colon:	n/a
24	chr6:27217857-27217907	SAEC	small airway:	n/a
25	chr6:27217857-27217907	T-47D	breast:	n/a
26	chr6:27217857-27217907	K562	blood:	n/a
27	chr6:27217857-27217907	ProgFib	skin:	n/a
28	chr6:27217857-27217907	HRE	kidney:	n/a
29	chr6:27217857-27217907	CMK	blood:	n/a
30	chr6:27217857-27217907	HL-60	blood:	n/a
31	chr6:27217857-27217907	HNPCEpiC	eye:	n/a
32	chr6:27217857-27217907	GM12878	blood:	n/a
33	chr6:27217857-27217907	SKMC	muscle:	n/a
34	chr6:27217857-27217907	AG04450	lung:	fetal
35	chr6:27217857-27217907	Caco-2	colon:	n/a
36	chr6:27217857-27217907	HEK293	kidney:	embryo
37	chr6:27217857-27217907	GM06990	blood:	n/a
38	chr6:27217857-27217907	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:27217857-27217907	PANC-1	pancreas:	n/a
40	chr6:27217857-27217907	BE2_C	brain:	n/a
41	chr6:27217857-27217907	HRPEpiC	eye:	n/a
42	chr6:27217857-27217907	HMEC	breast:	n/a
43	chr6:27217857-27217907	H1-hESC	embryonic stem cell:	embryo
44	chr6:27217857-27217907	HAEpiC	amniotic membrane:	n/a
45	chr6:27217857-27217907	SK-N-SH	brain:	n/a
46	chr6:27217857-27217907	U87	brain:	n/a
47	chr6:27217857-27217907	AG04449	skin:	fetal
48	chr6:27217857-27217907	HUVEC	blood vessel:	n/a
49	chr6:27217857-27217907	NHDF-neo	bronchial:	n/a
50	chr6:27217857-27217907	SK-N-SH_RA	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:

No data

Variant related genes	Relation type
PRSS16	TF binding region
PRSS16	CpG island
ENSG00000196747	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16894241	0.80[AFR][1000 genomes]
rs55925824	0.95[AFR][1000 genomes]
rs58265076	1.00[AFR][1000 genomes]
rs73738236	0.91[AFR][1000 genomes]
rs73738237	0.95[AFR][1000 genomes]
rs73739557	0.80[AFR][1000 genomes]
rs73740432	0.80[AFR][1000 genomes]
rs996246	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27216000-27218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27217400-27218000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27217400-27218000	Enhancers	GM12878-XiMat	blood
5	chr6:27217600-27218200	Enhancers	K562	blood
6	chr6:27217800-27218000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:27217800-27218000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr6:27217800-27218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:27217800-27218400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr6:27217800-27218600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell

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