Variant report

Variant	rs540081582
Chromosome Location	chr7:150812987-150812988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr7:150812519-150813775	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3A	chr7:150812324-150812997	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr7:150812975-150813684	MCF-7	breast:	n/a	n/a
4	TAF1	chr7:150812967-150813614	ECC-1	luminal epithelium:	n/a	n/a
5	NR2F2	chr7:150812933-150813842	MCF-7	breast:	n/a	n/a
6	GABPA	chr7:150811408-150813143	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr7:150812870-150813820	ECC-1	luminal epithelium:	n/a	chr7:150813348-150813358
8	POLR2A	chr7:150812929-150813593	HCT-116	colon:	n/a	n/a
9	POLR2A	chr7:150812903-150813645	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr7:150812594-150813733	ECC-1	luminal epithelium:	n/a	chr7:150813348-150813358
11	POLR2A	chr7:150812979-150813587	HCT-116	colon:	n/a	n/a
12	CTCF	chr7:150812840-150812990	HEEpiC	esophagus:	n/a	n/a
13	TEAD4	chr7:150812970-150813712	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr7:150812981-150813779	MCF-7	breast:	n/a	n/a
15	EP300	chr7:150812951-150813761	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr7:150812498-150812994	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:150812888-150813634	ECC-1	luminal epithelium:	n/a	n/a
18	GABPA	chr7:150812333-150813008	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr7:150812795-150813671	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr7:150812900-150813050	HRE	kidney:	n/a	n/a
21	TAF1	chr7:150812808-150813659	ECC-1	luminal epithelium:	n/a	n/a
22	ZBTB7A	chr7:150812644-150813766	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr7:150812841-150813727	ECC-1	luminal epithelium:	n/a	n/a
24	NFIC	chr7:150812848-150813645	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
2	chr7:150811800..150813328-chr7:150923060..150925511,2	MCF-7	breast:
3	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
4	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
5	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
6	chr7:150811813..150813371-chr7:150929013..150931225,2	MCF-7	breast:
7	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
8	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
9	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:

No data

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000033050	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	esv3370493	chr7:150809819-150814617	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv3330230	chr7:150810569-150813867	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv3436053	chr7:150810644-150813192	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3409283	chr7:150810919-150813867	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
2	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
3	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:150808200-150813600	Weak transcription	Liver	Liver
5	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
14	chr7:150811400-150813000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:150811400-150813000	Weak transcription	HepG2	liver
16	chr7:150811400-150813400	Enhancers	Adipose Nuclei	Adipose
17	chr7:150811400-150813600	Weak transcription	Fetal Lung	lung
18	chr7:150811400-150813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:150811400-150813800	Active TSS	Esophagus	oesophagus
20	chr7:150811400-150814000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:150811600-150813000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150811600-150813000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:150811600-150813000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:150811600-150813000	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr7:150811600-150813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:150811600-150813400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:150811600-150813600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:150811600-150813600	Active TSS	NHEK	skin
29	chr7:150811600-150814400	Weak transcription	K562	blood
30	chr7:150811600-150815200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:150811600-150815400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
33	chr7:150811800-150813000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:150811800-150813000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:150811800-150813000	Active TSS	Gastric	stomach
36	chr7:150811800-150813200	Weak transcription	HSMM	muscle
37	chr7:150811800-150813600	Active TSS	Lung	lung
38	chr7:150811800-150814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:150812200-150813200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:150812400-150813200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:150812400-150813200	Enhancers	HUVEC	blood vessel
42	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
43	chr7:150812600-150813000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:150812600-150813000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:150812600-150813000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:150812600-150813000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:150812600-150813000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:150812600-150813000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr7:150812600-150813000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:150812600-150813000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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