Variant report

Variant	rs370950963
Chromosome Location	chr3:138664707-138664708
allele	A/C
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	chr3:138664704-138666204	K562	blood:	n/a	chr3:138664897-138664917 chr3:138666106-138666117 chr3:138665889-138665898
2	MAX	chr3:138664549-138666373	A549	lung:	n/a	chr3:138666114-138666124
3	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
4	E2F6	chr3:138663661-138666655	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
5	MYC	chr3:138664664-138665415	K562	blood:	n/a	n/a
6	SETDB1	chr3:138663779-138665311	K562	blood:	n/a	n/a
7	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
8	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
9	MAX	chr3:138663689-138665507	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr3:138663622-138666590	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
11	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
12	MAX	chr3:138663683-138666644	H1-hESC	embryonic stem cell:	n/a	chr3:138666114-138666124
13	MAX	chr3:138663930-138665344	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr3:138663731-138667013	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
15	HMGN3	chr3:138663651-138666531	K562	blood:	n/a	n/a
16	E2F6	chr3:138663107-138666566	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
17	POLR2A	chr3:138664603-138666834	K562	blood:	n/a	n/a
18	POLR2A	chr3:138664490-138665255	A549	lung:	n/a	n/a
19	CTBP2	chr3:138663148-138666770	H1-hESC	embryonic stem cell:	n/a	n/a
20	SUZ12	chr3:138662343-138670118	NT2-D1	testis:	n/a	n/a
21	MAX	chr3:138664613-138665514	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138662930..138665142-chr3:139048462..139050899,2	K562	blood:
2	chr3:138663277..138665291-chr3:138920079..138922965,2	K562	blood:
3	chr3:138663376..138665458-chr3:138892996..138895666,2	K562	blood:
4	chr3:138661376..138665068-chr3:139062620..139064700,3	K562	blood:

Variant related genes	Relation type
C3orf72	TF binding region
ENSG00000244578	TF binding region
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3338518	chr3:138663787-138666635	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv530096	chr3:138664024-138665683	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr3:138663000-138664800	Weak transcription	A549	lung
4	chr3:138663000-138665000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
5	chr3:138663000-138665200	Bivalent Enhancer	Liver	Liver
6	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
9	chr3:138663200-138665200	Bivalent Enhancer	Placenta	Placenta
10	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
12	chr3:138663400-138665200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr3:138663400-138665200	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:138663600-138665400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:138663800-138665000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr3:138663800-138665200	Bivalent Enhancer	Left Ventricle	heart
23	chr3:138663800-138665400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:138663800-138665800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
25	chr3:138663800-138666200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr3:138663800-138666400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:138663800-138666400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:138663800-138666400	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr3:138664000-138664800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr3:138664000-138665000	Bivalent Enhancer	Lung	lung
31	chr3:138664000-138665000	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr3:138664000-138665000	Bivalent Enhancer	Spleen	Spleen
33	chr3:138664000-138665000	Bivalent Enhancer	HUVEC	blood vessel
34	chr3:138664000-138666200	Bivalent/Poised TSS	HSMM	muscle
35	chr3:138664200-138664800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr3:138664200-138664800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr3:138664200-138665000	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr3:138664200-138665200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr3:138664200-138665200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr3:138664200-138665200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr3:138664200-138665800	Enhancers	Gastric	stomach
42	chr3:138664200-138666400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:138664200-138666600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:138664400-138664800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:138664400-138664800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr3:138664400-138664800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr3:138664400-138664800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:138664400-138664800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:138664400-138664800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr3:138664400-138664800	Bivalent Enhancer	Esophagus	oesophagus

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