Variant report

Variant	rs2645307
Chromosome Location	chr1:119535908-119535909
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	NRF1	chr1:119535819-119536023	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr1:119535632-119536018	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr1:119535655-119536198	H1-hESC	embryonic stem cell:	n/a	chr1:119535732-119535749
4	E2F6	chr1:119535539-119536320	H1-hESC	embryonic stem cell:	n/a	chr1:119535732-119535749
5	MAX	chr1:119535721-119536211	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:119535820-119535970	GM12871	blood:	n/a	n/a
7	MAX	chr1:119535652-119536249	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:119535760-119535910	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr1:119535061-119536620	H1-neurons	neurons:	n/a	n/a
10	RAD21	chr1:119535830-119536731	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr1:119535692-119535983	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr1:119535656-119536221	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr1:119535840-119535990	SK-N-SH_RA	brain:	n/a	n/a
14	SUZ12	chr1:119535628-119536983	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:119534715-119536409	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119534347..119536922-chr1:119539168..119541617,2	K562	blood:

Variant related genes	Relation type
TBX15	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1014098	0.93[YRI][hapmap]
rs17022901	0.90[AFR][1000 genomes]
rs2256171	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256826	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645286	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2645287	0.90[AFR][1000 genomes]
rs2645298	0.86[AFR][1000 genomes]
rs2645304	0.90[AFR][1000 genomes]
rs2645306	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765535	0.90[AFR][1000 genomes]
rs2799756	0.86[AFR][1000 genomes]
rs2799757	0.90[AFR][1000 genomes]
rs2799758	0.90[AFR][1000 genomes]
rs2810933	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs2810934	0.84[AFR][1000 genomes]
rs74112208	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1001322	chr1:119527403-119569504	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119531200-119538200	Weak transcription	Right Atrium	heart
2	chr1:119533600-119537000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:119535000-119536000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:119535200-119536200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:119535200-119536200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:119535400-119536000	Bivalent Enhancer	Fetal Stomach	stomach
7	chr1:119535400-119536200	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr1:119535600-119536000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:119535600-119536000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr1:119535600-119536000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:119535600-119536000	Bivalent Enhancer	Colonic Mucosa	Colon
12	chr1:119535600-119536000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:119535600-119536000	Bivalent Enhancer	Left Ventricle	heart
14	chr1:119535600-119536000	Bivalent/Poised TSS	Right Ventricle	heart
15	chr1:119535600-119536200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr1:119535600-119536200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:119535600-119536200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr1:119535600-119536200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:119535600-119536200	Bivalent Enhancer	Placenta	Placenta
20	chr1:119535600-119536200	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr1:119535600-119536800	Bivalent Enhancer	Spleen	Spleen
22	chr1:119535800-119536000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:119535800-119536000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr1:119535800-119536000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:119535800-119536000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:119535800-119536000	Bivalent Enhancer	Liver	Liver
27	chr1:119535800-119536000	Bivalent Enhancer	Fetal Heart	heart
28	chr1:119535800-119536000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr1:119535800-119536000	Bivalent Enhancer	Ovary	ovary
30	chr1:119535800-119536000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr1:119535800-119536000	Bivalent Enhancer	HMEC	breast
32	chr1:119535800-119536000	Bivalent Enhancer	NH-A	brain
33	chr1:119535800-119536200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr1:119535800-119536200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:119535800-119536200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:119535800-119536200	Bivalent Enhancer	Fetal Brain Male	brain
37	chr1:119535800-119536200	Bivalent Enhancer	Lung	lung
38	chr1:119535800-119536200	Enhancers	Pancreas	Pancrea
39	chr1:119535800-119536400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr1:119535800-119536600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:119535800-119536600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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