Variant report

Variant	rs34242818
Chromosome Location	chr7:100230864-100230865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100230760-100230910	HMEC	breast:	n/a	n/a
2	POLR2A	chr7:100230616-100231164	A549	lung:	n/a	n/a
3	POLR2A	chr7:100230544-100231284	A549	lung:	n/a	n/a
4	E2F6	chr7:100230284-100231774	A549	lung:	n/a	n/a
5	MYC	chr7:100230444-100231794	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:100230434-100231386	HCT-116	colon:	n/a	n/a
7	POLR2A	chr7:100230594-100230940	A549	lung:	n/a	n/a
8	MXI1	chr7:100230538-100231234	Hela-S3	cervix:	n/a	n/a
9	SP1	chr7:100230452-100231010	A549	lung:	n/a	n/a
10	CTCF	chr7:100230720-100230870	AoAF	blood vessel:	n/a	n/a
11	POLR2A	chr7:100230495-100231248	Hela-S3	cervix:	n/a	n/a
12	MYC	chr7:100230454-100231874	A549	lung:	n/a	n/a
13	MYC	chr7:100230615-100230886	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr7:100230616-100231235	A549	lung:	n/a	n/a
15	RAD21	chr7:100230440-100230961	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF384	chr7:100230262-100231696	GM12878	blood:	n/a	n/a
17	CTCF	chr7:100230571-100230892	A549	lung:	n/a	n/a
18	SIN3AK20	chr7:100230548-100230910	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr7:100230165-100231993	SK-N-SH	brain:	n/a	chr7:100231913-100231922
20	MAX	chr7:100230587-100231205	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:100230470-100230867	K562	blood:	n/a	n/a
22	TBP	chr7:100230733-100231323	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:100230674-100231313	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:100230570-100230887	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:100230574-100230873	K562	blood:	n/a	n/a
26	MAX	chr7:100230561-100231198	NB4	blood:	n/a	n/a
27	GTF2F1	chr7:100230656-100230879	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:100230594-100230871	GM19240	blood:	n/a	n/a
29	POLR2A	chr7:100230569-100231235	GM12878	blood:	n/a	n/a
30	EBF1	chr7:100230462-100230972	GM12878	blood:	n/a	chr7:100230743-100230754
31	E2F6	chr7:100230211-100231886	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:100230518-100231854	Hela-S3	cervix:	n/a	n/a
33	MAX	chr7:100230345-100231821	A549	lung:	n/a	n/a
34	POLR2A	chr7:100230566-100230999	GM12878	blood:	n/a	n/a
35	CTCF	chr7:100230720-100230870	AG04450	lung:	n/a	n/a
36	SMC3	chr7:100230515-100230927	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr7:100230583-100230881	NHEK	skin:	n/a	n/a
38	MYC	chr7:100230628-100231191	MCF-7	breast:	n/a	n/a
39	ZKSCAN1	chr7:100230622-100231120	Hela-S3	cervix:	n/a	n/a
40	MYC	chr7:100230576-100230900	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr7:100230426-100231008	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:100230605-100231793	GM18505	blood:	n/a	n/a
43	CHD2	chr7:100230611-100231184	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:100230675-100231194	MCF-7	breast:	n/a	n/a
45	MAX	chr7:100230448-100231329	SK-N-SH	brain:	n/a	n/a
46	RFX5	chr7:100230529-100230916	Hela-S3	cervix:	n/a	n/a
47	MAZ	chr7:100230559-100231207	Hela-S3	cervix:	n/a	n/a
48	MAX	chr7:100230414-100231235	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr7:100230720-100230870	HFF	foreskin:	n/a	n/a
50	POLR2A	chr7:100230420-100230941	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100228514..100230091-chr7:100230120..100232178,2	MCF-7	breast:
2	chr7:100181873..100185085-chr7:100229346..100230888,3	MCF-7	breast:
3	chr3:156877457..156878033-chr7:100230361..100231153,2	Hela-S3	cervix:
4	chr7:100229407..100233868-chr7:100285575..100288686,3	MCF-7	breast:
5	chr7:100228266..100233162-chr7:100269916..100273013,5	MCF-7	breast:
6	chr7:100230115..100231071-chr9:130213499..130214467,2	Hela-S3	cervix:
7	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:
8	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
9	chr2:109150167..109150793-chr7:100230448..100231053,2	Hela-S3	cervix:
10	chr7:100182178..100184822-chr7:100229744..100231921,2	K562	blood:
11	chr7:100222704..100226086-chr7:100226785..100232803,8	K562	blood:
12	chr7:100229346..100236063-chr7:100236439..100240927,7	K562	blood:
13	chr7:100222996..100226349-chr7:100227974..100233612,12	MCF-7	breast:
14	chr3:14220075..14220680-chr7:100230689..100231250,2	Hela-S3	cervix:
15	chr5:43121369..43122102-chr7:100230574..100231155,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TFR2	TF binding region
ENSG00000106327	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000154767	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000214184	Chromatin interaction
ENSG00000106336	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2231176	1.00[ASN][1000 genomes]
rs57528748	1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs57694744	1.00[AMR][1000 genomes]
rs59409166	1.00[AMR][1000 genomes]
rs60112004	1.00[AMR][1000 genomes]
rs60174658	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73405329	1.00[AMR][1000 genomes]
rs73409003	1.00[AMR][1000 genomes]
rs73409046	1.00[AMR][1000 genomes]
rs73409072	1.00[AMR][1000 genomes]
rs73409075	1.00[AMR][1000 genomes]
rs73409100	1.00[AMR][1000 genomes]
rs73411103	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100225200-100234200	Strong transcription	K562	blood
2	chr7:100227200-100237000	Weak transcription	HepG2	liver
3	chr7:100230400-100231000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr7:100230400-100231000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:100230400-100231000	Genic enhancers	Liver	Liver
6	chr7:100230400-100231000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
7	chr7:100230400-100231000	Bivalent Enhancer	Placenta	Placenta
8	chr7:100230400-100231000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
9	chr7:100230400-100231200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:100230400-100231200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:100230400-100231400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:100230400-100231400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:100230400-100231400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:100230400-100231400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr7:100230400-100231400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr7:100230400-100231600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:100230400-100231600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:100230400-100231600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:100230400-100231600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:100230400-100231600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
21	chr7:100230400-100231600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:100230400-100231600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:100230400-100231600	Active TSS	Brain Anterior Caudate	brain
24	chr7:100230400-100231600	Active TSS	A549	lung
25	chr7:100230400-100231800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:100230400-100231800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:100230600-100231000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:100230600-100231000	Active TSS	Primary T cells from cord blood	blood
32	chr7:100230600-100231000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr7:100230600-100231000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:100230600-100231000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:100230600-100231000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
38	chr7:100230600-100231000	Flanking Active TSS	Right Atrium	heart
39	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	Thymus	Thymus
40	chr7:100230600-100231000	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr7:100230600-100231200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100230600-100231200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:100230600-100231200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:100230600-100231200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:100230600-100231200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:100230600-100231200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100230600-100231200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
48	chr7:100230600-100231200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr7:100230600-100231200	Flanking Active TSS	Esophagus	oesophagus
50	chr7:100230600-100231200	Enhancers	Fetal Heart	heart

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