Variant report

Variant	rs542644421
Chromosome Location	chr7:150810365-150810366
allele	C/T
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	YY1	chr7:150810333-150810617	HCT-116	colon:	n/a	n/a
2	CTCF	chr7:150810300-150810450	BE2_C	brain:	n/a	n/a
3	REST	chr7:150810298-150811387	SK-N-SH	brain:	n/a	chr7:150810815-150810835
4	BACH1	chr7:150810342-150810769	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:150810334-150811678	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr7:150810364-150810592	IMR90	lung:	n/a	chr7:150810447-150810456
7	SIN3AK20	chr7:150810353-150811460	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr7:150810320-150810470	SAEC	small airway:	n/a	chr7:150810447-150810456
9	TEAD4	chr7:150810276-150811782	SK-N-SH	brain:	n/a	chr7:150810572-150810581
10	CTCF	chr7:150810300-150810450	HAc	cerebellar:	n/a	n/a
11	CTCF	chr7:150810340-150810490	AG09309	skin:	n/a	chr7:150810447-150810456
12	BCL3	chr7:150810274-150811498	A549	lung:	n/a	n/a
13	TEAD4	chr7:150810275-150810821	H1-hESC	embryonic stem cell:	n/a	chr7:150810572-150810581
14	JUND	chr7:150810347-150810596	H1-hESC	embryonic stem cell:	n/a	chr7:150810442-150810450
15	CTCF	chr7:150810300-150810450	HPAF	blood vessel:	n/a	n/a
16	YY1	chr7:150810345-150810680	A549	lung:	n/a	n/a
17	MYC	chr7:150810350-150810688	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr7:150810274-150811559	A549	lung:	n/a	chr7:150811092-150811101
19	CTCF	chr7:150810300-150810450	AoAF	blood vessel:	n/a	n/a
20	JUND	chr7:150810242-150811482	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
21	JUND	chr7:150810276-150810815	A549	lung:	n/a	chr7:150810442-150810450
22	FOSL2	chr7:150810204-150811565	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
23	PBX3	chr7:150810223-150811647	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr7:150810271-150811668	SK-N-SH	brain:	n/a	chr7:150811092-150811101
25	HDAC2	chr7:150810345-150811397	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:150810340-150810490	HUVEC	blood vessel:	n/a	chr7:150810447-150810456
27	SP1	chr7:150810336-150810677	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:150810360-150810510	BJ	skin:	n/a	chr7:150810447-150810456
29	CTCF	chr7:150810360-150810510	AG09319	gingival:	n/a	chr7:150810447-150810456
30	CTCF	chr7:150810340-150810490	AG04450	lung:	n/a	chr7:150810447-150810456
31	CTCF	chr7:150810360-150810510	HCPEpiC	choroid plexus:	n/a	chr7:150810447-150810456
32	EP300	chr7:150810097-150811697	SK-N-SH	brain:	n/a	chr7:150811563-150811572 chr7:150811604-150811620 chr7:150811605-150811621 chr7:150811578-150811594
33	EP300	chr7:150810357-150811043	ECC-1	luminal epithelium:	n/a	n/a
34	FOSL2	chr7:150810236-150811386	A549	lung:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
35	CTCF	chr7:150810360-150810510	SAEC	small airway:	n/a	chr7:150810447-150810456
36	SP1	chr7:150810270-150810914	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr7:150810360-150810510	HEK293	kidney:	n/a	chr7:150810447-150810456
38	EP300	chr7:150810192-150811587	SK-N-SH	brain:	n/a	chr7:150811563-150811572
39	USF1	chr7:150810349-150810824	A549	lung:	n/a	n/a
40	CTCF	chr7:150810360-150810510	AG04450	lung:	n/a	chr7:150810447-150810456
41	PBX3	chr7:150810250-150811567	SK-N-SH	brain:	n/a	n/a
42	SP1	chr7:150810137-150811430	A549	lung:	n/a	n/a
43	MAX	chr7:150810280-150811670	SK-N-SH	brain:	n/a	n/a
44	JUND	chr7:150810192-150811534	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100
45	YY1	chr7:150810263-150810581	SK-N-SH_RA	brain:	n/a	n/a
46	GATA3	chr7:150810247-150811557	SK-N-SH	brain:	n/a	chr7:150811092-150811101
47	SP1	chr7:150810139-150811976	HCT-116	colon:	n/a	n/a
48	BCL3	chr7:150810269-150810769	A549	lung:	n/a	n/a
49	SIN3A	chr7:150810348-150810670	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr7:150810339-150810850	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
ENSG00000133612	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

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	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
4	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
7	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150806200-150810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:150807000-150810400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:150807200-150810600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
12	chr7:150808000-150811000	Weak transcription	Colonic Mucosa	Colon
13	chr7:150808000-150811200	Enhancers	Gastric	stomach
14	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:150808200-150810600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:150808200-150810600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:150808200-150810600	Weak transcription	NHDF-Ad	bronchial
18	chr7:150808200-150811000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:150808200-150811000	Weak transcription	Left Ventricle	heart
20	chr7:150808200-150811600	Weak transcription	Ovary	ovary
21	chr7:150808200-150813600	Weak transcription	Liver	Liver
22	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:150808400-150810600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:150808400-150810600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:150808400-150810800	Genic enhancers	K562	blood
26	chr7:150808400-150811200	Weak transcription	Adipose Nuclei	Adipose
27	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:150808600-150810400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:150808600-150810400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:150808600-150810600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:150808600-150810600	Weak transcription	Lung	lung
32	chr7:150808600-150810800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:150808600-150810800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:150808600-150811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:150808600-150811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:150808600-150811200	Weak transcription	Right Ventricle	heart
37	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
42	chr7:150808800-150810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:150808800-150810800	Strong transcription	Fetal Intestine Small	intestine
44	chr7:150808800-150811000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:150808800-150811000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:150809000-150810600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr7:150809200-150811400	Strong transcription	HepG2	liver
50	chr7:150809400-150812200	Weak transcription	Dnd41	blood

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