Variant report

Variant	rs532111259
Chromosome Location	chr7:150811844-150811845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr7:150811434-150811892	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr7:150811198-150811875	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr7:150811121-150811870	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr7:150811408-150813143	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr7:150811304-150811899	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr7:150811515-150811888	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr7:150811528-150811911	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr7:150811564-150811853	HCT-116	colon:	n/a	n/a
9	POLR2A	chr7:150811645-150811906	MCF10A-Er-Src	breast:	n/a	n/a
10	SP1	chr7:150810139-150811976	HCT-116	colon:	n/a	n/a
11	CTCF	chr7:150811840-150811990	GM12866	blood:	n/a	n/a
12	SIN3A	chr7:150811204-150811945	H1-hESC	embryonic stem cell:	n/a	chr7:150811515-150811523 chr7:150811587-150811600
13	POLR2A	chr7:150811537-150812830	ECC-1	luminal epithelium:	n/a	n/a
14	ZNF263	chr7:150810176-150811943	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:6 , 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	chr7:150811813..150813371-chr7:150929013..150931225,2	MCF-7	breast:
4	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
5	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
6	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:

No data

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 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	nsv609015	chr7:150809280-150812903	Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	esv11573	chr7:150811616-150812941	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	esv1795564	chr7:150811654-150812903	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv1808722	chr7:150811654-150812903	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
23	esv1809682	chr7:150811654-150812903	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	esv1810853	chr7:150811654-150812903	Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	esv1818165	chr7:150811654-150812903	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv1826719	chr7:150811654-150812903	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	esv1839972	chr7:150811654-150812903	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
28	esv1848465	chr7:150811654-150812903	Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
29	esv1851892	chr7:150811654-150812903	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
30	nsv609016	chr7:150811654-150812903	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
31	nsv609017	chr7:150811705-150812429	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
32	esv1795378	chr7:150811705-150812845	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
33	esv1842891	chr7:150811705-150812845	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
34	nsv609018	chr7:150811705-150812845	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
35	esv1838119	chr7:150811705-150812903	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
36	nsv609019	chr7:150811705-150812903	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
37	nsv609020	chr7:150811765-150812541	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
38	nsv609021	chr7:150811765-150812646	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
39	nsv609022	chr7:150811765-150812739	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
40	nsv609023	chr7:150811765-150812845	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
41	nsv609024	chr7:150811765-150812903	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
42	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
4	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:150808200-150813600	Weak transcription	Liver	Liver
6	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
13	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:150809400-150812200	Weak transcription	Dnd41	blood
15	chr7:150810200-150812000	Enhancers	HUVEC	blood vessel
16	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:150810600-150812000	Enhancers	Stomach Smooth Muscle	stomach
18	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:150811000-150812400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:150811000-150812800	Weak transcription	Brain Anterior Caudate	brain
21	chr7:150811200-150812000	Flanking Active TSS	Colonic Mucosa	Colon
22	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
23	chr7:150811400-150812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:150811400-150812400	Active TSS	Small Intestine	intestine
25	chr7:150811400-150812800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:150811400-150812800	Weak transcription	Brain Angular Gyrus	brain
27	chr7:150811400-150812800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:150811400-150813000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:150811400-150813000	Weak transcription	HepG2	liver
30	chr7:150811400-150813400	Enhancers	Adipose Nuclei	Adipose
31	chr7:150811400-150813600	Weak transcription	Fetal Lung	lung
32	chr7:150811400-150813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:150811400-150813800	Active TSS	Esophagus	oesophagus
34	chr7:150811400-150814000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:150811600-150812000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:150811600-150812000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:150811600-150812000	Flanking Active TSS	Right Atrium	heart
38	chr7:150811600-150812000	Flanking Active TSS	Right Ventricle	heart
39	chr7:150811600-150812400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:150811600-150812600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:150811600-150812600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:150811600-150812800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:150811600-150812800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150811600-150812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:150811600-150812800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:150811600-150812800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:150811600-150812800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:150811600-150812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:150811600-150812800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:150811600-150812800	Weak transcription	Fetal Intestine Small	intestine

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