Variant report

Variant	rs146436632
Chromosome Location	chr7:80291142-80291143
allele	A/G
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	chr7:80291080-80291230	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr7:80291089-80291376	H1-hESC	embryonic stem cell:	n/a	chr7:80291229-80291247
3	CTCF	chr7:80291120-80291270	GM12873	blood:	n/a	chr7:80291229-80291247
4	CTCF	chr7:80291140-80291290	WERI-Rb-1	eye:	n/a	chr7:80291229-80291247
5	CTCF	chr7:80291120-80291270	RPTEC	kidney:	n/a	chr7:80291229-80291247
6	CTCF	chr7:80291121-80291403	GM12878	blood:	n/a	chr7:80291229-80291247
7	TEAD4	chr7:80291118-80291389	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:80291120-80291270	WERI-Rb-1	eye:	n/a	chr7:80291229-80291247
9	CTCF	chr7:80291140-80291290	HUVEC	blood vessel:	n/a	chr7:80291229-80291247
10	CTCF	chr7:80291140-80291290	HL-60	blood:	n/a	chr7:80291229-80291247
11	RAD21	chr7:80291117-80291334	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr7:80291112-80291399	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr7:80291140-80291290	BE2_C	brain:	n/a	chr7:80291229-80291247
14	CTCF	chr7:80291120-80291270	GM12870	blood:	n/a	chr7:80291229-80291247
15	RAD21	chr7:80291122-80291323	GM12878	blood:	n/a	n/a
16	CTCF	chr7:80291100-80291250	GM06990	blood:	n/a	chr7:80291229-80291247
17	CTCF	chr7:80291140-80291290	SK-N-SH_RA	brain:	n/a	chr7:80291229-80291247
18	CTCF	chr7:80291140-80291290	GM12870	blood:	n/a	chr7:80291229-80291247
19	CTCF	chr7:80291140-80291290	HRPEpiC	eye:	n/a	chr7:80291229-80291247
20	CTCF	chr7:80291120-80291270	SK-N-SH_RA	brain:	n/a	chr7:80291229-80291247
21	CTCF	chr7:80291120-80291270	HMEC	breast:	n/a	chr7:80291229-80291247
22	CTCF	chr7:80291100-80291250	HRE	kidney:	n/a	chr7:80291229-80291247
23	CTCF	chr7:80291140-80291290	HFF-Myc	foreskin:	n/a	chr7:80291229-80291247
24	CTCF	chr7:80291060-80291210	HAc	cerebellar:	n/a	n/a
25	CTCF	chr7:80291020-80291170	HFF	foreskin:	n/a	n/a
26	CTCF	chr7:80291140-80291290	HEK293	kidney:	n/a	chr7:80291229-80291247
27	CTCF	chr7:80290980-80291469	MCF-7	breast:	n/a	chr7:80291229-80291247
28	CTCF	chr7:80291140-80291290	HCT-116	colon:	n/a	chr7:80291229-80291247
29	RAD21	chr7:80291096-80291425	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr7:80291069-80291359	H1-hESC	embryonic stem cell:	n/a	chr7:80291229-80291247
31	SMC3	chr7:80291124-80291324	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:80291120-80291270	HEEpiC	esophagus:	n/a	chr7:80291229-80291247
33	CTCF	chr7:80291140-80291290	AG10803	skin:	n/a	chr7:80291229-80291247
34	CTCF	chr7:80291120-80291270	GM12868	blood:	n/a	chr7:80291229-80291247
35	CTCF	chr7:80291120-80291270	GM12872	blood:	n/a	chr7:80291229-80291247
36	CTCF	chr7:80291140-80291290	NHDF-neo	bronchial:	n/a	chr7:80291229-80291247
37	CTCF	chr7:80291140-80291290	GM06990	blood:	n/a	chr7:80291229-80291247
38	CTCF	chr7:80291080-80291230	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr7:80291120-80291270	GM12874	blood:	n/a	chr7:80291229-80291247
40	RAD21	chr7:80291109-80291413	A549	lung:	n/a	n/a
41	CTCF	chr7:80291100-80291250	AG04450	lung:	n/a	chr7:80291229-80291247
42	CTCF	chr7:80291100-80291250	GM12864	blood:	n/a	chr7:80291229-80291247
43	CTCF	chr7:80291120-80291270	WI-38	lung:	n/a	chr7:80291229-80291247
44	CTCF	chr7:80291140-80291290	HPAF	blood vessel:	n/a	chr7:80291229-80291247
45	CTCF	chr7:80291120-80291270	AG04449	skin:	n/a	chr7:80291229-80291247
46	CTCF	chr7:80291140-80291290	AoAF	blood vessel:	n/a	chr7:80291229-80291247
47	CTCF	chr7:80291100-80291370	GM12872	blood:	n/a	chr7:80291229-80291247
48	CTCF	chr7:80291117-80291356	Gliobla	brain:	n/a	chr7:80291229-80291247
49	CTCF	chr7:80291140-80291290	AG04449	skin:	n/a	chr7:80291229-80291247
50	CTCF	chr7:80291080-80291330	K562	blood:	n/a	chr7:80291229-80291247

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80290704..80291673-chr7:80310324..80310826,2	MCF-7	breast:
2	chr7:80291053..80291665-chr7:81099051..81099939,2	MCF-7	breast:

Variant related genes	Relation type
CD36	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer 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
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv888535	chr7:80277632-80303350	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv888536	chr7:80287358-80297720	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv888537	chr7:80290528-80303350	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
3	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:80282200-80291800	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:80283200-80292600	Genic enhancers	Adipose Nuclei	Adipose
7	chr7:80284600-80291600	Weak transcription	Spleen	Spleen
8	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
9	chr7:80285200-80291200	Weak transcription	Left Ventricle	heart
10	chr7:80285800-80291600	Weak transcription	Right Ventricle	heart
11	chr7:80285800-80308200	Weak transcription	Liver	Liver
12	chr7:80288600-80306800	Weak transcription	Lung	lung
13	chr7:80288800-80292000	Weak transcription	Fetal Heart	heart
14	chr7:80288800-80295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:80288800-80301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:80288800-80308200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:80288800-80309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80289000-80294400	Weak transcription	Fetal Lung	lung
19	chr7:80289000-80305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:80289000-80308400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:80290000-80293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:80290000-80294600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:80290200-80299200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:80291000-80291800	Strong transcription	Fetal Muscle Trunk	muscle

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