Variant report

Variant	rs577655196
Chromosome Location	chr3:138663909-138663910
allele	A/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	JUND	chr3:138663215-138664060	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr3:138663792-138664456	K562	blood:	n/a	n/a
3	UBTF	chr3:138662706-138664404	K562	blood:	n/a	n/a
4	TAF1	chr3:138663657-138664047	K562	blood:	n/a	n/a
5	RCOR1	chr3:138662698-138664470	K562	blood:	n/a	n/a
6	UBTF	chr3:138661738-138664476	K562	blood:	n/a	n/a
7	ZBTB7A	chr3:138663672-138663968	K562	blood:	n/a	n/a
8	POLR2A	chr3:138663614-138664596	K562	blood:	n/a	n/a
9	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
10	E2F6	chr3:138663661-138666655	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
11	MAX	chr3:138663718-138664693	K562	blood:	n/a	n/a
12	TBL1XR1	chr3:138663659-138664190	K562	blood:	n/a	n/a
13	POLR2A	chr3:138663620-138664574	K562	blood:	n/a	n/a
14	SETDB1	chr3:138663779-138665311	K562	blood:	n/a	n/a
15	ZMIZ1	chr3:138663795-138664277	K562	blood:	n/a	n/a
16	PML	chr3:138663650-138664228	K562	blood:	n/a	n/a
17	GABPA	chr3:138663855-138664256	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:138663600-138664417	K562	blood:	n/a	n/a
19	SUZ12	chr3:138663787-138664668	H1-hESC	embryonic stem cell:	n/a	n/a
20	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
21	SIN3A	chr3:138663798-138663929	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
23	CBX3	chr3:138663708-138664570	K562	blood:	n/a	n/a
24	NR2F2	chr3:138663127-138664535	K562	blood:	n/a	n/a
25	HCFC1	chr3:138663744-138664418	K562	blood:	n/a	n/a
26	TBP	chr3:138663828-138664440	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr3:138663625-138664030	K562	blood:	n/a	n/a
28	MXI1	chr3:138663899-138664088	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr3:138663680-138664627	H1-neurons	neurons:	n/a	n/a
30	MAX	chr3:138663689-138665507	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr3:138663860-138664144	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:138662909-138664407	K562	blood:	n/a	n/a
33	E2F6	chr3:138663622-138666590	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
34	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
35	MYC	chr3:138663301-138664313	K562	blood:	n/a	n/a
36	HEY1	chr3:138663633-138664114	K562	blood:	n/a	n/a
37	TBP	chr3:138662699-138664307	K562	blood:	n/a	n/a
38	MAZ	chr3:138663646-138664435	K562	blood:	n/a	n/a
39	MAX	chr3:138663683-138666644	H1-hESC	embryonic stem cell:	n/a	chr3:138666114-138666124
40	YY1	chr3:138663692-138664151	K562	blood:	n/a	n/a
41	ZNF143	chr3:138663713-138664479	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr3:138663819-138664276	K562	blood:	n/a	n/a
43	POLR2A	chr3:138663707-138664140	K562	blood:	n/a	n/a
44	POLR2A	chr3:138662764-138664435	K562	blood:	n/a	n/a
45	E2F6	chr3:138663731-138667013	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
46	CHD2	chr3:138663780-138663979	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr3:138661932-138664635	H1-neurons	neurons:	n/a	n/a
48	HMGN3	chr3:138663651-138666531	K562	blood:	n/a	n/a
49	GABPA	chr3:138663752-138664215	H1-hESC	embryonic stem cell:	n/a	n/a
50	E2F6	chr3:138663107-138666566	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898

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: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138662000-138664000	Active TSS	K562	blood
2	chr3:138662200-138664000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:138662400-138666600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:138662800-138664000	Enhancers	Lung	lung
5	chr3:138662800-138664200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:138662800-138666600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr3:138663000-138664000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr3:138663000-138664200	Bivalent Enhancer	Brain Angular Gyrus	brain
9	chr3:138663000-138664600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr3:138663000-138664800	Weak transcription	A549	lung
11	chr3:138663000-138665000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr3:138663000-138665200	Bivalent Enhancer	Liver	Liver
13	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
16	chr3:138663200-138664000	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr3:138663200-138664200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:138663200-138664200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:138663200-138664400	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr3:138663200-138664600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
21	chr3:138663200-138665200	Bivalent Enhancer	Placenta	Placenta
22	chr3:138663200-138666000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr3:138663200-138666000	Bivalent Enhancer	Small Intestine	intestine
24	chr3:138663400-138664000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:138663400-138664000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr3:138663400-138664000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr3:138663400-138664200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr3:138663400-138664600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr3:138663400-138664600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:138663400-138665200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr3:138663400-138665200	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
33	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:138663600-138664000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:138663600-138664200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr3:138663600-138664400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr3:138663600-138664400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:138663600-138664400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr3:138663600-138664400	Bivalent Enhancer	Fetal Heart	heart
40	chr3:138663600-138664400	Bivalent Enhancer	Fetal Thymus	thymus
41	chr3:138663600-138664600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr3:138663600-138664600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr3:138663600-138664600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:138663600-138665400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr3:138663800-138664000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:138663800-138664000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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