Variant report

Variant	rs147805060
Chromosome Location	chr1:158763537-158763538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:126 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:158763480-158763630	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:158763420-158763570	SAEC	small airway:	n/a	n/a
3	CTCF	chr1:158763440-158763590	RPTEC	kidney:	n/a	n/a
4	CTCF	chr1:158763460-158763610	HL-60	blood:	n/a	n/a
5	CTCF	chr1:158763460-158763610	RPTEC	kidney:	n/a	n/a
6	RAD21	chr1:158763377-158763995	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:158763510-158763677	GM12891	blood:	n/a	n/a
8	CTCF	chr1:158763500-158763650	GM12869	blood:	n/a	n/a
9	CTCF	chr1:158763440-158763590	HCM	heart:	n/a	n/a
10	CTCF	chr1:158763480-158763630	GM12801	blood:	n/a	n/a
11	MAX	chr1:158763536-158763583	GM12878	blood:	n/a	n/a
12	CTCF	chr1:158763500-158763650	HUVEC	blood vessel:	n/a	n/a
13	RAD21	chr1:158763345-158763842	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:158763455-158763665	LNCaP	prostate:	n/a	n/a
15	CTCF	chr1:158763342-158763784	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr1:158763467-158763620	K562	blood:	n/a	n/a
17	ZNF143	chr1:158763446-158763812	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:158763520-158763670	GM12864	blood:	n/a	n/a
19	CTCF	chr1:158763480-158763630	BE2_C	brain:	n/a	n/a
20	CTCF	chr1:158763352-158763693	K562	blood:	n/a	n/a
21	CTCF	chr1:158763500-158763650	GM12866	blood:	n/a	n/a
22	CTCF	chr1:158763480-158763630	HMF	breast:	n/a	n/a
23	CTCF	chr1:158763500-158763650	GM06990	blood:	n/a	n/a
24	ZNF143	chr1:158763387-158763713	K562	blood:	n/a	n/a
25	CTCF	chr1:158763440-158763590	SAEC	small airway:	n/a	n/a
26	CTCF	chr1:158763480-158763630	K562	blood:	n/a	n/a
27	CTCF	chr1:158763480-158763630	GM06990	blood:	n/a	n/a
28	CTCF	chr1:158763337-158763740	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:158763480-158763630	GM12878	blood:	n/a	n/a
30	CTCF	chr1:158763420-158763570	HVMF	connective:	n/a	n/a
31	RAD21	chr1:158763358-158763740	GM12878	blood:	n/a	n/a
32	CTCF	chr1:158763337-158763767	K562	blood:	n/a	n/a
33	SMC3	chr1:158763421-158763721	K562	blood:	n/a	n/a
34	TBL1XR1	chr1:158763396-158763632	K562	blood:	n/a	n/a
35	CTCF	chr1:158763513-158763626	ProgFib	skin:	n/a	n/a
36	TCF12	chr1:158763385-158763662	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:158763464-158763633	Lung_OC	lung:	n/a	n/a
38	CTCF	chr1:158763420-158763570	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:158763460-158763610	AG04449	skin:	n/a	n/a
40	CTCF	chr1:158763430-158763678	K562	blood:	n/a	n/a
41	CTCF	chr1:158763476-158763613	GM10266	blood:	n/a	n/a
42	CTCF	chr1:158763460-158763610	AG04450	lung:	n/a	n/a
43	CTCF	chr1:158763465-158763711	GM19238	blood:	n/a	n/a
44	CTCF	chr1:158763500-158763650	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr1:158763459-158763607	GM13976	blood:	n/a	n/a
46	CTCF	chr1:158763500-158763650	GM12867	blood:	n/a	n/a
47	CTCF	chr1:158763512-158763617	HepG2	liver:	n/a	n/a
48	CTCF	chr1:158763460-158763610	HCPEpiC	choroid plexus:	n/a	n/a
49	RAD21	chr1:158763402-158763673	K562	blood:	n/a	n/a
50	CTCF	chr1:158763500-158763650	GM12875	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158763178..158764363-chr1:158967947..158968721,3	MCF-7	breast:

No data

Variant related genes	Relation type
OR2AQ1P	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006288	chr1:158684002-158844221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv535181	chr1:158684002-158844221	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv817245	chr1:158684003-158844220	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv547988	chr1:158685036-158848064	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv547989	chr1:158685036-158852953	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1011085	chr1:158703583-158845135	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869702	chr1:158758091-158790740	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv870369	chr1:158758091-158796383	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158763000-158763600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:158763200-158763600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:158763400-158763600	Active TSS	Primary B cells from cord blood	blood
4	chr1:158763400-158767800	Enhancers	Primary monocytes fromperipheralblood	blood

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