Variant report

Variant	rs17034849
Chromosome Location	chr1:10448596-10448597
allele	C/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	EP300	chr1:10447338-10449101	A549	lung:	n/a	n/a
2	CREB1	chr1:10448301-10448662	A549	lung:	n/a	n/a
3	EP300	chr1:10448272-10448812	HepG2	liver:	n/a	n/a
4	SIX5	chr1:10447379-10448955	A549	lung:	n/a	chr1:10448072-10448081
5	EBF1	chr1:10448414-10448724	GM12878	blood:	n/a	n/a
6	NR3C1	chr1:10448150-10448760	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
7	FOXA2	chr1:10448303-10448714	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:10448328-10448709	HepG2	liver:	n/a	n/a
9	EP300	chr1:10447300-10448991	A549	lung:	n/a	n/a
10	REST	chr1:10447347-10449071	A549	lung:	n/a	n/a
11	CEBPB	chr1:10447518-10448823	A549	lung:	n/a	chr1:10448206-10448219
12	ELF1	chr1:10448175-10448724	A549	lung:	n/a	chr1:10448370-10448381 chr1:10448369-10448382
13	BACH1	chr1:10447947-10448664	K562	blood:	n/a	n/a
14	MYBL2	chr1:10448291-10448804	HepG2	liver:	n/a	n/a
15	MAX	chr1:10447072-10449043	A549	lung:	n/a	n/a
16	BCL3	chr1:10447442-10448785	A549	lung:	n/a	n/a
17	CEBPB	chr1:10447456-10448910	A549	lung:	n/a	chr1:10448206-10448219
18	GATA3	chr1:10447311-10448926	A549	lung:	n/a	n/a
19	NR3C1	chr1:10448233-10448746	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
20	ZNF143	chr1:10448154-10448672	K562	blood:	n/a	n/a
21	SP1	chr1:10447356-10448907	A549	lung:	n/a	n/a
22	FOSL2	chr1:10447427-10448811	A549	lung:	n/a	chr1:10448264-10448276
23	HDAC2	chr1:10448345-10448800	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:10448441-10448769	HepG2	liver:	n/a	n/a
25	NR3C1	chr1:10447505-10448868	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448002-10448020 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
26	HNF4G	chr1:10448384-10448779	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:10448327-10448789	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:10448022-10448641	HL-60	blood:	n/a	n/a
29	NR3C1	chr1:10448099-10448850	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
30	SPI1	chr1:10448080-10448749	HL-60	blood:	n/a	chr1:10448369-10448382 chr1:10448372-10448381 chr1:10448373-10448380
31	NR2C2	chr1:10448158-10448684	Hela-S3	cervix:	n/a	n/a
32	HNF4G	chr1:10448396-10448746	HepG2	liver:	n/a	n/a
33	BCL3	chr1:10447376-10448884	A549	lung:	n/a	n/a
34	CEBPB	chr1:10448447-10448668	HepG2	liver:	n/a	n/a
35	TEAD4	chr1:10448119-10448817	HepG2	liver:	n/a	n/a
36	TAF1	chr1:10448286-10448784	A549	lung:	n/a	n/a
37	NR3C1	chr1:10448181-10448703	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
38	FOXA1	chr1:10448107-10448752	HepG2	liver:	n/a	n/a
39	NR3C1	chr1:10448193-10448796	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
40	ATF3	chr1:10447483-10448765	A549	lung:	n/a	n/a
41	HNF4A	chr1:10448484-10448804	HepG2	liver:	n/a	n/a
42	NR3C1	chr1:10448272-10448672	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
43	TCF12	chr1:10447561-10448746	A549	lung:	n/a	n/a
44	MAFK	chr1:10447822-10448866	GM12878	blood:	n/a	chr1:10448265-10448280 chr1:10448266-10448276 chr1:10448270-10448281 chr1:10448267-10448276 chr1:10448270-10448281 chr1:10448269-10448280
45	TCF12	chr1:10447110-10449165	A549	lung:	n/a	n/a
46	POLR2A	chr1:10448358-10448932	A549	lung:	n/a	n/a
47	SP1	chr1:10447095-10448986	A549	lung:	n/a	n/a
48	MAX	chr1:10447200-10448953	A549	lung:	n/a	n/a
49	MAFF	chr1:10448056-10448633	HepG2	liver:	n/a	chr1:10448264-10448282
50	MAFK	chr1:10447971-10448773	HepG2	liver:	n/a	chr1:10448265-10448280 chr1:10448266-10448276 chr1:10448270-10448281 chr1:10448267-10448276 chr1:10448270-10448281 chr1:10448269-10448280

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10448474..10450056-chr1:10452189..10454390,3	K562	blood:
4	chr1:10440809..10443662-chr1:10447796..10449625,2	MCF-7	breast:
5	chr1:10440159..10442885-chr1:10447718..10449584,2	MCF-7	breast:
6	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
7	chr1:10447080..10448885-chr1:10454434..10456655,2	MCF-7	breast:
8	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:

Variant related genes	Relation type
RN7SL721P	TF binding region
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs12090079	1.00[MEX][hapmap]
rs12238989	1.00[CEU][hapmap]
rs17034615	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17034655	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs17034660	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs17034716	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs17034766	0.88[ASN][1000 genomes]
rs17034775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17035154	1.00[MEX][hapmap]
rs2229688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs2297881	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	1.00[ASN][1000 genomes]
rs3819096	0.88[ASN][1000 genomes]
rs57963032	0.94[ASN][1000 genomes]
rs61508659	0.82[ASN][1000 genomes]
rs6540935	1.00[MEX][hapmap]
rs72865925	0.85[AMR][1000 genomes]
rs72865999	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72867431	0.83[ASN][1000 genomes]
rs72867433	0.83[ASN][1000 genomes]
rs72867438	0.89[ASN][1000 genomes]
rs72867441	1.00[ASN][1000 genomes]
rs72867455	1.00[ASN][1000 genomes]
rs72867467	0.94[ASN][1000 genomes]
rs72867469	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10435600-10448800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10435600-10448800	Weak transcription	Gastric	stomach
3	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
4	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:10440000-10458400	Weak transcription	Lung	lung
7	chr1:10444800-10448800	Weak transcription	Pancreas	Pancrea
8	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
10	chr1:10446000-10448600	Weak transcription	Brain Germinal Matrix	brain
11	chr1:10446400-10449600	Enhancers	Placenta	Placenta
12	chr1:10446400-10450400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:10446800-10449800	Enhancers	Fetal Intestine Small	intestine
14	chr1:10447000-10448600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:10447000-10448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:10447000-10448600	Enhancers	Fetal Stomach	stomach
17	chr1:10447000-10448800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:10447000-10448800	Weak transcription	Esophagus	oesophagus
19	chr1:10447000-10449000	Enhancers	Liver	Liver
20	chr1:10447000-10449000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:10447000-10449000	Enhancers	Fetal Intestine Large	intestine
22	chr1:10447000-10449000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:10447000-10449200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:10447000-10449600	Enhancers	Stomach Mucosa	stomach
25	chr1:10447000-10450000	Enhancers	Fetal Thymus	thymus
26	chr1:10447200-10448600	Enhancers	Brain Angular Gyrus	brain
27	chr1:10447200-10449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:10447200-10449600	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:10447200-10449800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:10447200-10450000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:10447400-10448600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:10447400-10448600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:10447400-10448600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:10447400-10448600	Enhancers	Small Intestine	intestine
35	chr1:10447400-10448600	Enhancers	HMEC	breast
36	chr1:10447400-10449200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:10447600-10448600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:10447600-10448600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:10447600-10448600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:10447600-10448600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:10447600-10448600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:10447600-10448600	Flanking Active TSS	Hela-S3	cervix
43	chr1:10447600-10448600	Enhancers	K562	blood
44	chr1:10447600-10448800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:10447600-10448800	Flanking Active TSS	Dnd41	blood
46	chr1:10447600-10448800	Enhancers	HUVEC	blood vessel
47	chr1:10447600-10448800	Enhancers	NH-A	brain
48	chr1:10447600-10449000	Enhancers	Brain Anterior Caudate	brain
49	chr1:10447600-10449000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:10447600-10449200	Enhancers	Primary hematopoietic stem cells	blood

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