Variant report

Variant	rs6875637
Chromosome Location	chr5:179918722-179918723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179918678-179918814	GM19238	blood:	n/a	n/a
2	CTCF	chr5:179918664-179918803	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:179918620-179918770	HepG2	liver:	n/a	n/a
4	CTCF	chr5:179918716-179918731	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:179918692-179918806	GM19239	blood:	n/a	n/a
6	CTCF	chr5:179918680-179918764	Gliobla	brain:	n/a	n/a
7	CTCF	chr5:179918709-179918756	IMR90	lung:	n/a	n/a
8	CTCF	chr5:179918640-179918790	AG04449	skin:	n/a	n/a
9	CTCF	chr5:179918653-179918798	Medullo	brain:	n/a	n/a
10	CTCF	chr5:179918680-179918830	GM12874	blood:	n/a	n/a
11	CTCF	chr5:179918703-179918779	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:179918600-179918750	A549	lung:	n/a	n/a
13	CTCF	chr5:179918618-179918855	H1-hESC	embryonic stem cell:	n/a	n/a
14	SPI1	chr5:179918409-179918822	HL-60	blood:	n/a	n/a
15	CTCF	chr5:179918600-179918750	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr5:179918643-179918878	GM12878	blood:	n/a	n/a
17	CTCF	chr5:179918635-179918783	K562	blood:	n/a	n/a
18	CTCF	chr5:179918605-179918827	HepG2	liver:	n/a	n/a
19	CTCF	chr5:179918720-179918870	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr5:179918544-179918801	K562	blood:	n/a	n/a
21	CTCF	chr5:179918670-179918844	GM12892	blood:	n/a	n/a
22	CTCF	chr5:179918682-179918788	HepG2	liver:	n/a	n/a
23	RAD21	chr5:179918652-179918852	HepG2	liver:	n/a	n/a
24	CTCF	chr5:179918580-179918730	HepG2	liver:	n/a	n/a
25	CTCF	chr5:179918620-179918770	HRE	kidney:	n/a	n/a
26	CTCF	chr5:179918640-179918790	HBMEC	blood vessel:	n/a	n/a
27	RAD21	chr5:179918584-179918790	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:179918679-179918782	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:179918600-179918750	GM12878	blood:	n/a	n/a
30	CTCF	chr5:179918580-179918730	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr5:179918463-179918957	HCT-116	colon:	n/a	chr5:179918468-179918477 chr5:179918467-179918480
32	CTCF	chr5:179918685-179918782	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:179918527-179918861	A549	lung:	n/a	n/a
34	CTCF	chr5:179918573-179918909	HepG2	liver:	n/a	n/a
35	CTCF	chr5:179918660-179918810	HEK293	kidney:	n/a	n/a
36	SPI1	chr5:179918341-179918844	HL-60	blood:	n/a	n/a
37	CTCF	chr5:179918580-179918730	NB4	blood:	n/a	n/a
38	SIN3A	chr5:179918659-179918773	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:179918629-179918855	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr5:179918549-179918865	HepG2	liver:	n/a	n/a
41	RAD21	chr5:179918587-179918750	K562	blood:	n/a	n/a
42	CTCF	chr5:179918544-179918848	K562	blood:	n/a	n/a
43	RAD21	chr5:179918508-179918893	HepG2	liver:	n/a	n/a
44	CTCF	chr5:179918660-179918810	WERI-Rb-1	eye:	n/a	n/a
45	RAD21	chr5:179918426-179918910	H1-hESC	embryonic stem cell:	n/a	chr5:179918468-179918481
46	CTCF	chr5:179918522-179918842	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:179918457-179918900	K562	blood:	n/a	chr5:179918468-179918477 chr5:179918467-179918480
48	CTCF	chr5:179918580-179918730	BE2_C	brain:	n/a	n/a
49	CTCF	chr5:179918562-179918842	K562	blood:	n/a	n/a
50	CTCF	chr5:179918713-179918745	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:179918331..179919238-chr5:180032789..180033687,2	MCF-7	breast:
2	chr5:179911143..179913074-chr5:179916683..179919096,2	K562	blood:
3	chr5:179910434..179912774-chr5:179917900..179919453,2	MCF-7	breast:
4	chr5:179916710..179919562-chr5:179919647..179921987,3	MCF-7	breast:
5	chr5:179918146..179918859-chr5:180033017..180033559,2	MCF-7	breast:

No data

Variant related genes	Relation type
CNOT6	TF binding region
ENSG00000113300	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56755455	0.85[ASN][1000 genomes]
rs9637933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179900000-179920400	Weak transcription	A549	lung
2	chr5:179911800-179919600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:179911800-179920200	Weak transcription	Pancreas	Pancrea
4	chr5:179912000-179920400	Weak transcription	NHDF-Ad	bronchial
5	chr5:179913600-179919400	Weak transcription	Dnd41	blood
6	chr5:179914200-179920400	Weak transcription	Fetal Stomach	stomach
7	chr5:179914600-179920400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:179915000-179921000	Weak transcription	Aorta	Aorta
9	chr5:179915600-179920400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:179916400-179920400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:179916800-179920400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:179917400-179920800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:179917600-179919600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:179917800-179919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:179917800-179920400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:179918000-179919000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:179918000-179919800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:179918000-179919800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:179918200-179918800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:179918200-179918800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:179918200-179919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:179918200-179919000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:179918200-179920400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:179918400-179919000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:179918400-179921000	Weak transcription	Lung	lung
26	chr5:179918600-179918800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179918600-179918800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:179918600-179918800	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:179918600-179919200	Enhancers	Fetal Thymus	thymus
30	chr5:179918600-179920000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:179918600-179920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:179918600-179920400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:179918600-179921000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:179918600-179921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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