Variant report

Variant	rs1933607
Chromosome Location	chr1:209403379-209403380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:209403030-209403384	K562	blood:	n/a	chr1:209403200-209403215 chr1:209403195-209403215
2	MAFK	chr1:209403019-209403392	IMR90	lung:	n/a	chr1:209403200-209403215 chr1:209403195-209403215
3	MAFK	chr1:209403032-209403381	HepG2	liver:	n/a	chr1:209403200-209403215 chr1:209403195-209403215
4	MAFF	chr1:209403024-209403385	HepG2	liver:	n/a	chr1:209403199-209403217
5	MAFK	chr1:209403021-209403388	HepG2	liver:	n/a	chr1:209403200-209403215 chr1:209403195-209403215

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209403378-209403428	SK-N-SH_RA	brain:	n/a
2	chr1:209403378-209403428	HCT-116	colon:	n/a
3	chr1:209403378-209403428	NHBE	bronchial:	n/a
4	chr1:209403378-209403428	GM19239	blood:	n/a
5	chr1:209403378-209403428	NHDF-neo	bronchial:	n/a
6	chr1:209403378-209403428	Jurkat	blood:	n/a
7	chr1:209403378-209403428	T-47D	breast:	n/a
8	chr1:209403378-209403428	H1-hESC	embryonic stem cell:	embryo
9	chr1:209403378-209403428	PrEC	prostate:	n/a
10	chr1:209403378-209403428	CMK	blood:	n/a
11	chr1:209403378-209403428	AG09309	skin:	n/a
12	chr1:209403378-209403428	NH-A	brain:	n/a
13	chr1:209403378-209403428	ProgFib	skin:	n/a
14	chr1:209403378-209403428	HMEC	breast:	n/a
15	chr1:209403378-209403428	HNPCEpiC	eye:	n/a
16	chr1:209403378-209403428	HRE	kidney:	n/a
17	chr1:209403378-209403428	IMR90	lung:	fetal
18	chr1:209403378-209403428	ovcar-3	ovarian:	n/a
19	chr1:209403378-209403428	BE2_C	brain:	n/a
20	chr1:209403378-209403428	HL-60	blood:	n/a
21	chr1:209403378-209403428	GM06990	blood:	n/a
22	chr1:209403378-209403428	Hepatocyte	liver:	n/a
23	chr1:209403378-209403428	HCF	heart:	n/a
24	chr1:209403378-209403428	GM12878	blood:	n/a
25	chr1:209403378-209403428	K562	blood:	n/a
26	chr1:209403378-209403428	NT2-D1	testis:	n/a
27	chr1:209403378-209403428	Caco-2	colon:	n/a
28	chr1:209403378-209403428	HRCEpiC	kidney:	n/a
29	chr1:209403378-209403428	HCM	heart:	n/a
30	chr1:209403378-209403428	AG04450	lung:	fetal
31	chr1:209403378-209403428	HEEpiC	esophagus:	n/a
32	chr1:209403378-209403428	HEK293	kidney:	embryo
33	chr1:209403378-209403428	MCF10A-Er-Src	breast:	n/a
34	chr1:209403378-209403428	PANC-1	pancreas:	n/a
35	chr1:209403378-209403428	SK-N-MC	brain:	n/a
36	chr1:209403378-209403428	HAEpiC	amniotic membrane:	n/a
37	chr1:209403378-209403428	PFSK-1	brain:	n/a
38	chr1:209403378-209403428	GM12891	blood:	n/a
39	chr1:209403378-209403428	SK-N-SH	brain:	n/a
40	chr1:209403378-209403428	SKMC	muscle:	n/a
41	chr1:209403378-209403428	A549	lung:	n/a
42	chr1:209403378-209403428	HRPEpiC	eye:	n/a
43	chr1:209403378-209403428	HUVEC	blood vessel:	n/a
44	chr1:209403378-209403428	BJ	skin:	n/a
45	chr1:209403378-209403428	AG09319	gingival:	n/a
46	chr1:209403378-209403428	U87	brain:	n/a
47	chr1:209403378-209403428	AoSMC	blood vessel:	n/a
48	chr1:209403378-209403428	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:209403378-209403428	HCPEpiC	choroid plexus:	n/a
50	chr1:209403378-209403428	LNCaP	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209403276..209405119-chr1:209607404..209609101,2	MCF-7	breast:
2	chr1:209403047..209404912-chr1:209429099..209430969,2	K562	blood:
3	chr1:209393306..209397796-chr1:209399926..209403415,4	MCF-7	breast:
4	chr1:209401346..209403763-chr1:209407691..209409973,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224540	TF binding region
ENSG00000224540	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17014159	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17014178	0.81[AFR][1000 genomes]
rs17014186	0.81[AFR][1000 genomes]
rs17014193	0.91[YRI][hapmap]
rs1933608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2788152	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209400800-209404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:209401400-209403600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:209402200-209403600	Enhancers	HMEC	breast
4	chr1:209402200-209403800	Enhancers	NHEK	skin
5	chr1:209402400-209403400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209402600-209404000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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