Variant report

Variant	rs190382909
Chromosome Location	chr4:130061794-130061795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:130061740-130061890	AG04450	lung:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
2	CTCF	chr4:130061760-130061910	HPAF	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
3	CTCF	chr4:130061720-130061870	HFF-Myc	foreskin:	n/a	n/a
4	RAD21	chr4:130061599-130062151	SK-N-SH	brain:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
5	RAD21	chr4:130061721-130062013	ECC-1	luminal epithelium:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
6	CTCF	chr4:130061720-130061870	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr4:130061615-130062170	SK-N-SH	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
8	CTCF	chr4:130061780-130061930	HEEpiC	esophagus:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
9	CTCF	chr4:130061785-130061922	Pancreas_OC	pancreas:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
10	CTCF	chr4:130061660-130061810	HAc	cerebellar:	n/a	n/a
11	CTCF	chr4:130061760-130062030	HAc	cerebellar:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
12	CTCF	chr4:130061760-130061910	BE2_C	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
13	CTCF	chr4:130061779-130061929	Medullo	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
14	CTCF	chr4:130061760-130061910	HCM	heart:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
15	CTCF	chr4:130061720-130061870	BE2_C	brain:	n/a	n/a
16	CTCF	chr4:130061780-130061930	SK-N-SH_RA	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
17	RAD21	chr4:130061710-130062050	H1-hESC	embryonic stem cell:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
18	CTCF	chr4:130061740-130061890	K562	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
19	EP300	chr4:130061736-130061934	K562	blood:	n/a	n/a
20	RAD21	chr4:130061743-130062044	SK-N-SH_RA	brain:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
21	CTCF	chr4:130061778-130061962	K562	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
22	CTCF	chr4:130061760-130061910	BJ	skin:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
23	CTCF	chr4:130061715-130061976	GM12878	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
24	CTCF	chr4:130061740-130061890	HMF	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
25	RAD21	chr4:130061696-130062042	Hela-S3	cervix:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
26	CTCF	chr4:130061727-130061974	SK-N-SH_RA	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
27	RAD21	chr4:130061615-130062078	HCT-116	colon:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
28	CTCF	chr4:130061780-130061930	HVMF	connective:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
29	CTCF	chr4:130061785-130061985	HUVEC	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
30	CTCF	chr4:130061780-130061930	Hela-S3	cervix:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
31	RAD21	chr4:130061746-130062072	H1-hESC	embryonic stem cell:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
32	CTCF	chr4:130061740-130061890	HPF	lung:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
33	CTCF	chr4:130061760-130061910	HBMEC	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
34	CTCF	chr4:130061740-130061890	AG09319	gingival:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
35	CTCF	chr4:130061720-130061870	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr4:130061760-130061910	MCF-7	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
37	CTCF	chr4:130061792-130061924	LNCaP	prostate:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
38	CTCF	chr4:130061704-130062021	K562	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
39	CTCF	chr4:130061760-130061910	Caco-2	colon:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
40	CTCF	chr4:130061740-130061890	AoAF	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
41	CTCF	chr4:130061760-130061910	HCPEpiC	choroid plexus:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
42	RAD21	chr4:130061758-130062020	H1-hESC	embryonic stem cell:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
43	RAD21	chr4:130061720-130062129	HCT-116	colon:	n/a	chr4:130061865-130061872 chr4:130061863-130061882
44	CTCF	chr4:130061780-130061930	HMF	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
45	CTCF	chr4:130061780-130061930	HCPEpiC	choroid plexus:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
46	CTCF	chr4:130061720-130061870	HCFaa	heart:	n/a	n/a
47	CTCF	chr4:130061772-130061952	Hela-S3	cervix:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
48	CTCF	chr4:130061784-130061922	LNCaP	prostate:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
49	CTCF	chr4:130061760-130061910	HMEC	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
50	RAD21	chr4:130061670-130062029	SK-N-SH_RA	brain:	n/a	chr4:130061865-130061872 chr4:130061863-130061882

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:

Variant related genes	Relation type
ZSWIM5P3	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv511266	chr4:130060230-130072652	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060200-130065800	Weak transcription	K562	blood
2	chr4:130060400-130062800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:130060400-130063400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea

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