Variant report

Variant	rs550050909
Chromosome Location	chr7:150811336-150811337
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	TCF7L2	chr7:150810791-150811581	PANC-1	pancreas:	n/a	chr7:150811091-150811100 chr7:150811417-150811433 chr7:150811421-150811428
2	REST	chr7:150810298-150811387	SK-N-SH	brain:	n/a	chr7:150810815-150810835
3	CBX3	chr7:150810580-150811435	K562	blood:	n/a	n/a
4	TBL1XR1	chr7:150810975-150811340	K562	blood:	n/a	n/a
5	MAX	chr7:150810334-150811678	SK-N-SH	brain:	n/a	n/a
6	SIN3AK20	chr7:150810353-150811460	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr7:150811320-150811470	SK-N-SH_RA	brain:	n/a	n/a
8	TEAD4	chr7:150810276-150811782	SK-N-SH	brain:	n/a	chr7:150810572-150810581
9	YY1	chr7:150810945-150811507	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr7:150811277-150811427	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr7:150810368-150811428	PFSK-1	brain:	n/a	n/a
12	BCL3	chr7:150810274-150811498	A549	lung:	n/a	n/a
13	E2F6	chr7:150811221-150811367	K562	blood:	n/a	n/a
14	KAP1	chr7:150810381-150811544	HEK293	kidney:	n/a	n/a
15	MAX	chr7:150811198-150811875	ECC-1	luminal epithelium:	n/a	n/a
16	GATA3	chr7:150810274-150811559	A549	lung:	n/a	chr7:150811092-150811101
17	EP300	chr7:150810841-150811436	SK-N-SH_RA	brain:	n/a	n/a
18	MAX	chr7:150811121-150811870	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr7:150810242-150811482	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
20	FOSL2	chr7:150810204-150811565	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
21	HMGN3	chr7:150811198-150811396	K562	blood:	n/a	n/a
22	YY1	chr7:150811241-150811464	K562	blood:	n/a	n/a
23	TRIM28	chr7:150810886-150811390	K562	blood:	n/a	n/a
24	PBX3	chr7:150810223-150811647	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr7:150810271-150811668	SK-N-SH	brain:	n/a	chr7:150811092-150811101
26	HDAC2	chr7:150810345-150811397	MCF-7	breast:	n/a	n/a
27	EP300	chr7:150810829-150811368	SK-N-SH_RA	brain:	n/a	n/a
28	TCF12	chr7:150811304-150811899	ECC-1	luminal epithelium:	n/a	n/a
29	EP300	chr7:150810097-150811697	SK-N-SH	brain:	n/a	chr7:150811563-150811572 chr7:150811604-150811620 chr7:150811605-150811621 chr7:150811578-150811594
30	RXRA	chr7:150810376-150811502	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr7:150810236-150811386	A549	lung:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
32	POLR2A	chr7:150810931-150811454	K562	blood:	n/a	n/a
33	GATA3	chr7:150810882-150811362	SH-SY5Y	brain:	n/a	chr7:150811092-150811101
34	EP300	chr7:150810192-150811587	SK-N-SH	brain:	n/a	chr7:150811563-150811572
35	PBX3	chr7:150810250-150811567	SK-N-SH	brain:	n/a	n/a
36	SP1	chr7:150810137-150811430	A549	lung:	n/a	n/a
37	MAX	chr7:150810280-150811670	SK-N-SH	brain:	n/a	n/a
38	JUND	chr7:150810192-150811534	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
39	GATA3	chr7:150810646-150811450	MCF-7	breast:	n/a	chr7:150811092-150811101
40	GATA2	chr7:150810853-150811687	SH-SY5Y	brain:	n/a	chr7:150811092-150811101
41	POLR2A	chr7:150810491-150811559	IMR90	lung:	n/a	n/a
42	SIN3AK20	chr7:150810682-150811566	MCF-7	breast:	n/a	n/a
43	GATA3	chr7:150810247-150811557	SK-N-SH	brain:	n/a	chr7:150811092-150811101
44	GATA3	chr7:150810926-150811377	MCF-7	breast:	n/a	chr7:150811092-150811101
45	SP1	chr7:150810139-150811976	HCT-116	colon:	n/a	n/a
46	POLR2A	chr7:150810842-150811396	HUVEC	blood vessel:	n/a	n/a
47	TCF7L2	chr7:150810827-150811370	MCF-7	breast:	n/a	chr7:150811091-150811100
48	POLR2A	chr7:150810288-150811519	SK-N-SH	brain:	n/a	n/a
49	MYC	chr7:150811207-150811772	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr7:150810216-150811400	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
2	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
3	chr7:150809563..150811680-chr7:150929692..150931212,2	MCF-7	breast:
4	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:

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

No data

Chromatin state (count:109 , 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	chr7:150808200-150811600	Weak transcription	Ovary	ovary
6	chr7:150808200-150813600	Weak transcription	Liver	Liver
7	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr7:150809200-150811400	Strong transcription	HepG2	liver
17	chr7:150809400-150812200	Weak transcription	Dnd41	blood
18	chr7:150809800-150811600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:150810000-150811400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:150810000-150811400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:150810000-150811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:150810000-150811600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:150810200-150811400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:150810200-150811400	Enhancers	Brain Angular Gyrus	brain
25	chr7:150810200-150811400	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr7:150810200-150811400	Strong transcription	Spleen	Spleen
27	chr7:150810200-150811600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:150810200-150811600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:150810200-150811600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:150810200-150811600	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr7:150810200-150811600	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:150810200-150811600	Flanking Active TSS	A549	lung
33	chr7:150810200-150811600	Flanking Active TSS	HSMM	muscle
34	chr7:150810200-150811600	Flanking Active TSS	NHEK	skin
35	chr7:150810200-150811800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr7:150810200-150811800	Enhancers	Placenta	Placenta
37	chr7:150810200-150811800	Enhancers	HSMMtube	muscle
38	chr7:150810200-150812000	Enhancers	HUVEC	blood vessel
39	chr7:150810400-150811600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:150810400-150811600	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr7:150810400-150811600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr7:150810400-150811800	Flanking Active TSS	NH-A	brain
43	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:150810600-150811400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:150810600-150811600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:150810600-150811600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:150810600-150811600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:150810600-150811600	Enhancers	Lung	lung
49	chr7:150810600-150811600	Enhancers	Stomach Mucosa	stomach
50	chr7:150810600-150811800	Enhancers	Placenta Amnion	Placenta Amnion

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