Variant report

Variant	rs371206426
Chromosome Location	chr3:138666298-138666299
allele	C/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	ZBTB7A	chr3:138665318-138666608	K562	blood:	n/a	n/a
2	POLR2A	chr3:138664948-138666357	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr3:138665624-138666322	K562	blood:	n/a	n/a
4	SMARCB1	chr3:138664989-138666842	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr3:138665017-138666795	K562	blood:	n/a	chr3:138666114-138666124
6	CTCF	chr3:138666211-138666690	K562	blood:	n/a	n/a
7	TAF1	chr3:138664973-138666613	K562	blood:	n/a	n/a
8	MAX	chr3:138665570-138666469	H1-hESC	embryonic stem cell:	n/a	chr3:138666114-138666124
9	POLR2A	chr3:138664890-138666825	K562	blood:	n/a	n/a
10	POLR2A	chr3:138665748-138666299	A549	lung:	n/a	n/a
11	HCFC1	chr3:138664826-138666363	Hela-S3	cervix:	n/a	n/a
12	SIN3A	chr3:138665532-138666575	H1-hESC	embryonic stem cell:	n/a	chr3:138665612-138665625 chr3:138666039-138666050 chr3:138665609-138665618
13	HEY1	chr3:138665462-138666614	K562	blood:	n/a	chr3:138665812-138665827
14	TBP	chr3:138664919-138666740	K562	blood:	n/a	n/a
15	MAX	chr3:138664549-138666373	A549	lung:	n/a	chr3:138666114-138666124
16	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
17	E2F6	chr3:138663661-138666655	H1-hESC	embryonic stem cell:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
18	POLR2A	chr3:138665082-138666478	K562	blood:	n/a	n/a
19	POLR2A	chr3:138665748-138666341	PANC-1	pancreas:	n/a	n/a
20	RCOR1	chr3:138665037-138666727	K562	blood:	n/a	n/a
21	TEAD4	chr3:138665637-138666328	K562	blood:	n/a	n/a
22	UBTF	chr3:138664715-138666727	K562	blood:	n/a	n/a
23	POLR2A	chr3:138665608-138666744	Hela-S3	cervix:	n/a	n/a
24	MYC	chr3:138665617-138666775	K562	blood:	n/a	chr3:138666114-138666124
25	POLR2A	chr3:138664719-138666765	K562	blood:	n/a	n/a
26	POLR2A	chr3:138665645-138666508	K562	blood:	n/a	n/a
27	SRF	chr3:138665998-138666372	K562	blood:	n/a	n/a
28	SMC3	chr3:138665928-138666504	Hela-S3	cervix:	n/a	chr3:138665935-138665945
29	CCNT2	chr3:138663704-138666364	K562	blood:	n/a	chr3:138665889-138665898 chr3:138665882-138665891
30	POLR2A	chr3:138666250-138666474	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
32	YY1	chr3:138664945-138666307	K562	blood:	n/a	chr3:138666106-138666117 chr3:138665889-138665898
33	E2F6	chr3:138663622-138666590	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
34	PML	chr3:138665715-138666344	K562	blood:	n/a	n/a
35	POLR2A	chr3:138664892-138666622	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr3:138665421-138666370	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:138665654-138666323	K562	blood:	n/a	n/a
38	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
39	JUND	chr3:138665643-138666689	K562	blood:	n/a	chr3:138666034-138666043 chr3:138665890-138665899
40	RCOR1	chr3:138665791-138666540	Hela-S3	cervix:	n/a	n/a
41	HDAC2	chr3:138665853-138666359	K562	blood:	n/a	n/a
42	HCFC1	chr3:138664985-138666613	K562	blood:	n/a	n/a
43	POLR2A	chr3:138664905-138666591	K562	blood:	n/a	n/a
44	JUN	chr3:138664800-138666967	K562	blood:	n/a	chr3:138666034-138666043 chr3:138665890-138665899
45	MAZ	chr3:138665021-138666670	Hela-S3	cervix:	n/a	chr3:138666114-138666124
46	MAX	chr3:138663683-138666644	H1-hESC	embryonic stem cell:	n/a	chr3:138666114-138666124
47	POLR2A	chr3:138665783-138666439	H1-neurons	neurons:	n/a	n/a
48	HEY1	chr3:138664942-138666637	K562	blood:	n/a	chr3:138665812-138665827
49	POLR2A	chr3:138664918-138666587	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr3:138664943-138666539	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138552263..138555163-chr3:138665790..138667540,3	K562	blood:
2	chr3:138552568..138555141-chr3:138666105..138668600,2	K562	blood:

Variant related genes	Relation type
FOXL2	TF binding region
C3orf72	TF binding region
ENSG00000244578	TF binding region
ENSG00000051382	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	nsv529311	chr3:138665250-138667190	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 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	chr3:138663000-138666400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:138663000-138666600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:138663000-138666600	Active TSS	Hela-S3	cervix
6	chr3:138663400-138666400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr3:138663400-138666600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:138663600-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:138663600-138666600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr3:138663800-138666400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:138663800-138666400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:138663800-138666400	Bivalent/Poised TSS	Psoas Muscle	Psoas
15	chr3:138664200-138666400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:138664200-138666600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:138664400-138666400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:138664400-138666600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:138664400-138666600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:138664400-138666800	Active TSS	NHDF-Ad	bronchial
21	chr3:138664600-138666400	Active TSS	Aorta	Aorta
22	chr3:138664600-138666600	Active TSS	K562	blood
23	chr3:138664600-138668800	Active TSS	Ovary	ovary
24	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr3:138664800-138666400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr3:138664800-138666600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:138664800-138666600	Active TSS	A549	lung
33	chr3:138665000-138666400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr3:138665000-138666400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr3:138665000-138666600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr3:138665000-138666600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:138665000-138666600	Bivalent Enhancer	Fetal Heart	heart
38	chr3:138665200-138666400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr3:138665200-138666400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr3:138665400-138666400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr3:138665400-138666400	Enhancers	Spleen	Spleen
47	chr3:138665400-138666400	Bivalent/Poised TSS	NHEK	skin
48	chr3:138665400-138666600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:138665400-138666800	Bivalent Enhancer	Liver	Liver
50	chr3:138665600-138666400	Bivalent Enhancer	Esophagus	oesophagus

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