Variant report

Variant	rs372947093
Chromosome Location	chr7:150815438-150815439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150815229-150815795	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150815391-150815441	ovcar-3	ovarian:	n/a
2	chr7:150815391-150815441	HCF	heart:	n/a
3	chr7:150815391-150815441	T-47D	breast:	n/a
4	chr7:150815391-150815441	SK-N-SH	brain:	n/a
5	chr7:150815391-150815441	NHBE	bronchial:	n/a
6	chr7:150815391-150815441	LNCaP	prostate:	n/a
7	chr7:150815391-150815441	AG09319	gingival:	n/a
8	chr7:150815391-150815441	GM12892	blood:	n/a
9	chr7:150815391-150815441	SK-N-SH_RA	brain:	n/a
10	chr7:150815391-150815441	HRE	kidney:	n/a
11	chr7:150815391-150815441	HEEpiC	esophagus:	n/a
12	chr7:150815391-150815441	PrEC	prostate:	n/a
13	chr7:150815391-150815441	Hela-S3	cervix:	n/a
14	chr7:150815391-150815441	SKMC	muscle:	n/a
15	chr7:150815391-150815441	HMEC	breast:	n/a
16	chr7:150815391-150815441	SK-N-MC	brain:	n/a
17	chr7:150815391-150815441	HepG2	liver:	n/a
18	chr7:150815391-150815441	GM06990	blood:	n/a
19	chr7:150815391-150815441	MCF-7	breast:	n/a
20	chr7:150815391-150815441	AG04449	skin:	fetal
21	chr7:150815391-150815441	PANC-1	pancreas:	n/a
22	chr7:150815391-150815441	Jurkat	blood:	n/a
23	chr7:150815391-150815441	U87	brain:	n/a
24	chr7:150815391-150815441	NHDF-neo	bronchial:	n/a
25	chr7:150815391-150815441	NB4	blood:	n/a
26	chr7:150815391-150815441	IMR90	lung:	fetal
27	chr7:150815391-150815441	AG09309	skin:	n/a
28	chr7:150815391-150815441	AoSMC	blood vessel:	n/a
29	chr7:150815391-150815441	HCPEpiC	choroid plexus:	n/a
30	chr7:150815391-150815441	NH-A	brain:	n/a
31	chr7:150815391-150815441	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:150815391-150815441	CMK	blood:	n/a
33	chr7:150815391-150815441	GM12891	blood:	n/a
34	chr7:150815391-150815441	K562	blood:	n/a
35	chr7:150815391-150815441	Hepatocyte	liver:	n/a
36	chr7:150815391-150815441	MCF10A-Er-Src	breast:	n/a
37	chr7:150815391-150815441	RPTEC	kidney:	n/a
38	chr7:150815391-150815441	AG10803	skin:	n/a
39	chr7:150815391-150815441	ECC-1	luminal epithelium:	n/a
40	chr7:150815391-150815441	BE2_C	brain:	n/a
41	chr7:150815391-150815441	HCT-116	colon:	n/a
42	chr7:150815391-150815441	HIPEpiC	eye:	n/a
43	chr7:150815391-150815441	HNPCEpiC	eye:	n/a
44	chr7:150815391-150815441	HRPEpiC	eye:	n/a
45	chr7:150815391-150815441	HAEpiC	amniotic membrane:	n/a
46	chr7:150815391-150815441	GM19239	blood:	n/a
47	chr7:150815391-150815441	NT2-D1	testis:	n/a
48	chr7:150815391-150815441	Caco-2	colon:	n/a
49	chr7:150815391-150815441	HL-60	blood:	n/a
50	chr7:150815391-150815441	AG04450	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:8094111..8096395-chr7:150814186..150816873,2	MCF-7	breast:
2	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
3	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:

No data

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000107485	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000197308	Chromatin interaction
ENSG00000243350	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	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
16	esv3438638	chr7:150814869-150817367	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
2	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
3	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
4	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
5	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:150812800-150815600	Weak transcription	Aorta	Aorta
7	chr7:150812800-150815800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:150812800-150816200	Flanking Active TSS	Dnd41	blood
9	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
10	chr7:150813000-150818800	Strong transcription	HepG2	liver
11	chr7:150813000-150821400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:150813000-150822400	Strong transcription	NHLF	lung
13	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:150813200-150815600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150813200-150815600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:150813200-150815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:150813200-150816200	Weak transcription	HUVEC	blood vessel
19	chr7:150813200-150821000	Weak transcription	Fetal Brain Male	brain
20	chr7:150813200-150822200	Weak transcription	Right Atrium	heart
21	chr7:150813400-150816000	Genic enhancers	Spleen	Spleen
22	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150813600-150815600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:150813600-150816000	Weak transcription	HSMM	muscle
25	chr7:150813600-150819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:150813600-150821200	Strong transcription	Fetal Stomach	stomach
27	chr7:150813600-150821400	Strong transcription	Right Ventricle	heart
28	chr7:150813600-150822200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:150813600-150822400	Strong transcription	Fetal Brain Female	brain
30	chr7:150813600-150822400	Strong transcription	Fetal Intestine Small	intestine
31	chr7:150813600-150822600	Strong transcription	Liver	Liver
32	chr7:150813800-150815600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:150813800-150819000	Weak transcription	Fetal Heart	heart
34	chr7:150813800-150819400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:150813800-150820800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:150813800-150821000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:150813800-150821200	Strong transcription	Brain Anterior Caudate	brain
38	chr7:150813800-150821200	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:150814000-150815600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:150814000-150817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:150814000-150819000	Weak transcription	A549	lung
42	chr7:150814000-150821000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:150814000-150821200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:150814000-150821200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:150814000-150822200	Strong transcription	Lung	lung
46	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:150814200-150815600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:150814200-150815600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:150814200-150817000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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