Variant report

Variant	rs537919736
Chromosome Location	chr7:150813403-150813404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:150813193-150813544	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF263	chr7:150812995-150813779	HEK293-T-REx	kidney:	n/a	chr7:150813388-150813409
3	POLR2A	chr7:150813028-150813541	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr7:150813101-150813541	MCF10A-Er-Src	breast:	n/a	n/a
5	ZBTB7A	chr7:150812519-150813775	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr7:150812975-150813684	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:150813380-150813530	HMEC	breast:	n/a	n/a
8	TAF1	chr7:150812967-150813614	ECC-1	luminal epithelium:	n/a	n/a
9	NR2F2	chr7:150812933-150813842	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:150813340-150813490	SAEC	small airway:	n/a	n/a
11	POLR2A	chr7:150813374-150813425	HUVEC	blood vessel:	n/a	n/a
12	REST	chr7:150813143-150813698	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:150813380-150813476	MCF-7	breast:	n/a	n/a
14	TCF12	chr7:150812870-150813820	ECC-1	luminal epithelium:	n/a	chr7:150813348-150813358
15	POLR2A	chr7:150812929-150813593	HCT-116	colon:	n/a	n/a
16	MYC	chr7:150813343-150813418	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:150812903-150813645	ECC-1	luminal epithelium:	n/a	n/a
18	TCF12	chr7:150812594-150813733	ECC-1	luminal epithelium:	n/a	chr7:150813348-150813358
19	POLR2A	chr7:150812979-150813587	HCT-116	colon:	n/a	n/a
20	EGR1	chr7:150813040-150813680	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr7:150812970-150813712	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr7:150812981-150813779	MCF-7	breast:	n/a	n/a
23	EP300	chr7:150812951-150813761	ECC-1	luminal epithelium:	n/a	n/a
24	STAT3	chr7:150813256-150813454	MCF10A-Er-Src	breast:	n/a	n/a
25	YY1	chr7:150813152-150813423	HCT-116	colon:	n/a	n/a
26	POLR2A	chr7:150812888-150813634	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr7:150813027-150813466	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:150813046-150813650	MCF10A-Er-Src	breast:	n/a	n/a
29	TEAD4	chr7:150813048-150813734	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr7:150812795-150813671	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr7:150813325-150813582	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr7:150812808-150813659	ECC-1	luminal epithelium:	n/a	n/a
33	ZBTB7A	chr7:150812644-150813766	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr7:150812841-150813727	ECC-1	luminal epithelium:	n/a	n/a
35	NFIC	chr7:150812848-150813645	ECC-1	luminal epithelium:	n/a	n/a
36	YY1	chr7:150812990-150813461	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
2	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
3	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
4	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
5	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
6	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
7	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
18	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:114 , 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	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
11	chr7:150811400-150813600	Weak transcription	Fetal Lung	lung
12	chr7:150811400-150813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:150811400-150813800	Active TSS	Esophagus	oesophagus
14	chr7:150811400-150814000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:150811600-150813600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:150811600-150813600	Active TSS	NHEK	skin
17	chr7:150811600-150814400	Weak transcription	K562	blood
18	chr7:150811600-150815200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:150811600-150815400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
21	chr7:150811800-150813600	Active TSS	Lung	lung
22	chr7:150811800-150814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
24	chr7:150812600-150813600	Flanking Active TSS	NH-A	brain
25	chr7:150812600-150814400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:150812800-150813600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr7:150812800-150813600	Genic enhancers	Fetal Intestine Small	intestine
29	chr7:150812800-150813600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr7:150812800-150813800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:150812800-150813800	Enhancers	Brain Angular Gyrus	brain
32	chr7:150812800-150813800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:150812800-150813800	Enhancers	Fetal Heart	heart
34	chr7:150812800-150813800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr7:150812800-150814000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:150812800-150814000	Enhancers	A549	lung
37	chr7:150812800-150814200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:150812800-150814400	Enhancers	Stomach Mucosa	stomach
39	chr7:150812800-150814600	Flanking Active TSS	HMEC	breast
40	chr7:150812800-150815200	Weak transcription	Ovary	ovary
41	chr7:150812800-150815200	Weak transcription	Osteobl	bone
42	chr7:150812800-150815400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:150812800-150815600	Weak transcription	Aorta	Aorta
44	chr7:150812800-150815800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:150812800-150816200	Flanking Active TSS	Dnd41	blood
46	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
47	chr7:150813000-150813600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:150813000-150813600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:150813000-150813600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:150813000-150813600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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