Variant report

Variant	rs563351215
Chromosome Location	chr7:139477228-139477229
allele	C/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	ZBTB7A	chr7:139476625-139478556	K562	blood:	n/a	chr7:139478411-139478422
2	ZBTB7A	chr7:139477055-139477345	HepG2	liver:	n/a	n/a
3	ZBTB7A	chr7:139476603-139478150	K562	blood:	n/a	n/a
4	YY1	chr7:139477169-139477618	GM12892	blood:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477535-139477546 chr7:139477507-139477515
5	YY1	chr7:139476538-139479022	SK-N-SH	brain:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477901-139477921 chr7:139477535-139477546 chr7:139477507-139477515 chr7:139477989-139478000
6	SMARCB1	chr7:139476651-139477522	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:139476514-139478674	K562	blood:	n/a	n/a
8	YY1	chr7:139477180-139477579	K562	blood:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477535-139477546 chr7:139477507-139477515
9	POLR2A	chr7:139476950-139477271	A549	lung:	n/a	n/a
10	YY1	chr7:139477178-139477614	K562	blood:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477535-139477546 chr7:139477507-139477515
11	POLR2A	chr7:139475569-139477586	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:139474972-139478525	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr7:139474826-139479222	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:139476306-139478541	GM18951	blood:	n/a	n/a
15	MXI1	chr7:139473683-139479282	IMR90	lung:	n/a	n/a
16	EGR1	chr7:139476909-139477310	K562	blood:	n/a	chr7:139477044-139477059 chr7:139477045-139477058
17	ZBTB7A	chr7:139476977-139477422	HepG2	liver:	n/a	n/a
18	MAZ	chr7:139476328-139478500	K562	blood:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
19	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
20	POLR2A	chr7:139477078-139478572	A549	lung:	n/a	n/a
21	POLR2A	chr7:139475679-139478399	GM19099	blood:	n/a	n/a
22	POLR2A	chr7:139476499-139478556	GM15510	blood:	n/a	n/a
23	ZBTB7A	chr7:139476559-139477550	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:139476441-139477684	H1-neurons	neurons:	n/a	n/a
25	YY1	chr7:139477160-139477599	HepG2	liver:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477535-139477546 chr7:139477507-139477515
26	EGR1	chr7:139476965-139477259	K562	blood:	n/a	chr7:139477044-139477059 chr7:139477045-139477058
27	POLR2A	chr7:139476463-139478446	H1-neurons	neurons:	n/a	n/a
28	REST	chr7:139476413-139478393	H1-neurons	neurons:	n/a	chr7:139477980-139477993 chr7:139477434-139477443
29	ZBTB7A	chr7:139476534-139478462	ECC-1	luminal epithelium:	n/a	chr7:139478411-139478422

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction
ENSG00000158373	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3442657	chr7:139476008-139478856	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3374483	chr7:139476358-139478831	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3371546	chr7:139476533-139478481	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139474800-139478400	Active TSS	Right Ventricle	heart
2	chr7:139475400-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:139475400-139478200	Active TSS	Thymus	Thymus
4	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
6	chr7:139475400-139478600	Active TSS	Lung	lung
7	chr7:139475400-139478800	Active TSS	Aorta	Aorta
8	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:139475600-139478000	Active TSS	Colonic Mucosa	Colon
10	chr7:139475600-139478000	Active TSS	Pancreas	Pancrea
11	chr7:139475600-139478200	Active TSS	Gastric	stomach
12	chr7:139475600-139478200	Active TSS	Right Atrium	heart
13	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
14	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:139475600-139478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:139475600-139478600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:139475600-139478600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:139475600-139478600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
21	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
22	chr7:139475600-139479000	Active TSS	NHLF	lung
23	chr7:139475800-139478200	Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:139475800-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:139475800-139478200	Active TSS	Adipose Nuclei	Adipose
26	chr7:139475800-139478200	Active TSS	Liver	Liver
27	chr7:139475800-139478200	Active TSS	Placenta	Placenta
28	chr7:139475800-139478200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:139475800-139478200	Active TSS	GM12878-XiMat	blood
30	chr7:139475800-139478200	Active TSS	HMEC	breast
31	chr7:139475800-139478400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:139475800-139478400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:139475800-139478400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:139475800-139478400	Active TSS	Brain Anterior Caudate	brain
35	chr7:139475800-139478400	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:139475800-139478400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:139475800-139478400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:139475800-139478400	Active TSS	Fetal Intestine Small	intestine
39	chr7:139475800-139478400	Active TSS	Fetal Stomach	stomach
40	chr7:139475800-139478400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr7:139475800-139478400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:139475800-139478400	Active TSS	Small Intestine	intestine
43	chr7:139475800-139478400	Active TSS	NHEK	skin
44	chr7:139475800-139478600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:139475800-139478600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:139475800-139478600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:139475800-139478600	Active TSS	Colon Smooth Muscle	Colon
48	chr7:139475800-139478600	Active TSS	Fetal Intestine Large	intestine
49	chr7:139475800-139478600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr7:139475800-139478600	Active TSS	Rectal Smooth Muscle	rectum

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