Variant report

Variant	rs138929994
Chromosome Location	chr3:195166955-195166956
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr3:195166666-195167110	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr3:195166946-195167062	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:195166473-195167089	K562	blood:	n/a	n/a
4	POLR2A	chr3:195166611-195167013	GM12891	blood:	n/a	n/a
5	HEY1	chr3:195166406-195167076	K562	blood:	n/a	n/a
6	GTF2B	chr3:195166829-195167115	K562	blood:	n/a	n/a
7	MAFK	chr3:195166779-195166982	IMR90	lung:	n/a	n/a
8	TEAD4	chr3:195166691-195167174	K562	blood:	n/a	n/a
9	POLR2A	chr3:195166757-195166996	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:195166727-195166991	GM12891	blood:	n/a	n/a
11	TAF7	chr3:195166666-195167074	K562	blood:	n/a	n/a
12	PML	chr3:195166400-195167049	K562	blood:	n/a	n/a
13	PML	chr3:195166484-195167117	K562	blood:	n/a	n/a
14	TBP	chr3:195166902-195167126	K562	blood:	n/a	n/a
15	POLR2A	chr3:195166417-195166992	K562	blood:	n/a	n/a
16	POLR2A	chr3:195166558-195167040	K562	blood:	n/a	n/a
17	HEY1	chr3:195166606-195167079	K562	blood:	n/a	n/a
18	POLR2A	chr3:195166766-195166993	H1-hESC	embryonic stem cell:	n/a	n/a
19	RCOR1	chr3:195166815-195166973	K562	blood:	n/a	n/a
20	ZMIZ1	chr3:195166773-195166975	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195164614..195167496-chr3:195169106..195172382,4	K562	blood:
2	chr3:195162020..195165766-chr3:195166533..195172631,9	MCF-7	breast:
3	chr3:195164614..195167502-chr3:195169044..195171295,4	K562	blood:
4	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:
5	chr3:195163742..195165509-chr3:195165685..195167332,2	K562	blood:
6	chr3:195162962..195165336-chr3:195165436..195167180,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACAP2	TF binding region
ENSG00000173950	Chromatin interaction
ENSG00000114331	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv10379	chr3:195166939-195170590	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195164600-195167200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:195164600-195170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:195164600-195171000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:195164600-195171200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:195164800-195167000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:195164800-195167000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:195164800-195167000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:195164800-195167000	Weak transcription	Stomach Mucosa	stomach
9	chr3:195164800-195167200	Weak transcription	Fetal Intestine Large	intestine
10	chr3:195164800-195167400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:195164800-195167800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:195165000-195167200	Enhancers	Primary T cells from cord blood	blood
13	chr3:195165200-195167000	Weak transcription	K562	blood
14	chr3:195166400-195167400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:195166400-195167400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:195166400-195167400	Enhancers	GM12878-XiMat	blood
17	chr3:195166600-195167000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:195166600-195167200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:195166600-195167200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:195166600-195167200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:195166600-195167400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:195166600-195167600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:195166600-195172600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:195166800-195167000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:195166800-195167000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:195166800-195167000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:195166800-195167200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:195166800-195167200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr3:195166800-195167200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:195166800-195167200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:195166800-195167200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:195166800-195167400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:195166800-195167400	Enhancers	Primary B cells from cord blood	blood
34	chr3:195166800-195167400	Enhancers	Fetal Thymus	thymus
35	chr3:195166800-195167400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr3:195166800-195167800	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:195166800-195168200	Enhancers	HepG2	liver

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