Variant report

Variant	rs3814093
Chromosome Location	chr7:26330993-26330994
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	RAD21	chr7:26330993-26331768	HCT-116	colon:	n/a	n/a
2	MTA3	chr7:26330896-26331941	GM12878	blood:	n/a	n/a
3	MTA3	chr7:26330885-26331555	GM12878	blood:	n/a	n/a
4	ZNF263	chr7:26330975-26331965	HEK293-T-REx	kidney:	n/a	n/a
5	SMC3	chr7:26330866-26331652	GM12878	blood:	n/a	n/a
6	RUNX3	chr7:26330849-26331622	GM12878	blood:	n/a	chr7:26331031-26331040 chr7:26331031-26331040
7	HCFC1	chr7:26330646-26332609	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:26330685-26332084	SK-N-SH	brain:	n/a	n/a
9	RUNX3	chr7:26330788-26331667	GM12878	blood:	n/a	chr7:26331031-26331040 chr7:26331031-26331040
10	EP300	chr7:26330860-26331657	K562	blood:	n/a	chr7:26331600-26331616 chr7:26331606-26331615 chr7:26331522-26331531 chr7:26330994-26331001 chr7:26331509-26331525

No.	Distal block	Cell Line	Cell type
1	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
2	chr7:26245933..26247865-chr7:26330832..26332898,2	MCF-7	breast:
3	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:
4	chr7:26330494..26332726-chr7:26403941..26406420,2	MCF-7	breast:
5	chr7:26328900..26331776-chr7:26331845..26333997,2	K562	blood:
6	chr7:26237070..26238753-chr7:26328239..26331209,2	MCF-7	breast:
7	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
8	chr7:26329968..26332567-chr7:26407158..26410797,3	MCF-7	breast:
9	chr7:26239487..26241674-chr7:26327759..26331370,3	K562	blood:
10	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:

Variant related genes	Relation type
SNX10	TF binding region
ENSG00000122566	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12672396	0.97[AMR][1000 genomes]
rs12674076	0.88[AMR][1000 genomes]
rs35073600	0.97[AMR][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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1018352	chr7:26298095-26341825	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26328400-26331000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:26328600-26331000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:26328600-26331200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:26330800-26331000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:26330800-26331000	Active TSS	Primary B cells from cord blood	blood
6	chr7:26330800-26331000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:26330800-26331000	Enhancers	Primary T cells from cord blood	blood
8	chr7:26330800-26331000	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:26330800-26331000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:26330800-26331000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:26330800-26331000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:26330800-26331000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:26330800-26331000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:26330800-26331000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:26330800-26331000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:26330800-26331000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:26330800-26331000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:26330800-26331000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:26330800-26331000	Enhancers	Liver	Liver
20	chr7:26330800-26331000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:26330800-26331000	Enhancers	Fetal Brain Male	brain
22	chr7:26330800-26331000	Enhancers	Fetal Brain Female	brain
23	chr7:26330800-26331000	Active TSS	Fetal Intestine Small	intestine
24	chr7:26330800-26331000	Enhancers	Fetal Thymus	thymus
25	chr7:26330800-26331000	Enhancers	HepG2	liver
26	chr7:26330800-26331000	Enhancers	K562	blood
27	chr7:26330800-26331200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:26330800-26331200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:26330800-26331200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:26330800-26331200	Enhancers	Placenta	Placenta
31	chr7:26330800-26331200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr7:26330800-26331200	Flanking Active TSS	Hela-S3	cervix
33	chr7:26330800-26331400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:26330800-26331400	Flanking Active TSS	A549	lung
35	chr7:26330800-26331400	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:26330800-26332200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:26330800-26332200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:26330800-26332200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:26330800-26332200	Active TSS	HMEC	breast
40	chr7:26330800-26332600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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