Variant report

Variant	rs7349410
Chromosome Location	chr2:112913967-112913968
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	EGR1	chr2:112913958-112914493	MCF-7	breast:	n/a	chr2:112914231-112914245 chr2:112914213-112914227 chr2:112914214-112914228 chr2:112914215-112914225 chr2:112914215-112914225 chr2:112914214-112914225 chr2:112914214-112914225
2	WRNIP1	chr2:112913945-112914084	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:112911308..112914054-chr2:113031885..113034558,2	K562	blood:
2	chr2:112894459..112897038-chr2:112912289..112914115,2	MCF-7	breast:
3	chr2:112911116..112914054-chr2:113031578..113034558,3	K562	blood:
4	chr2:112912607..112915274-chr2:112919768..112922184,2	K562	blood:

Variant related genes	Relation type
FBLN7	TF binding region
ENSG00000144152	Chromatin interaction
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11677075	0.87[ASN][1000 genomes]
rs12185740	0.85[ASN][1000 genomes]
rs13400421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2872109	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4318395	0.99[ASN][1000 genomes]
rs62157841	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9917306	0.86[EUR][1000 genomes];0.88[ASN][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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112898200-112915000	Weak transcription	Pancreas	Pancrea
3	chr2:112899200-112914000	Weak transcription	HepG2	liver
4	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
5	chr2:112907200-112920400	Weak transcription	Right Atrium	heart
6	chr2:112907400-112914200	Enhancers	HSMM	muscle
7	chr2:112907600-112914400	Enhancers	HSMMtube	muscle
8	chr2:112908400-112914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:112908800-112914000	Weak transcription	HMEC	breast
10	chr2:112909200-112914000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:112911200-112914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:112911600-112914000	Weak transcription	NHDF-Ad	bronchial
13	chr2:112911800-112914800	Enhancers	Fetal Thymus	thymus
14	chr2:112912000-112915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:112912200-112914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:112912200-112914600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:112912200-112914600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:112912400-112915000	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:112912600-112914400	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:112912800-112914000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:112912800-112914400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:112912800-112914400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:112912800-112914400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:112912800-112914600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:112912800-112914600	Enhancers	Spleen	Spleen
27	chr2:112913000-112914200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:112913000-112914200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr2:112913000-112914200	Enhancers	HUVEC	blood vessel
30	chr2:112913000-112914400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr2:112913000-112914400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:112913000-112914600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:112913000-112914600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:112913000-112914600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:112913000-112914600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:112913000-112914600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:112913000-112914600	Enhancers	Adipose Nuclei	Adipose
38	chr2:112913000-112915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:112913200-112914000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:112913200-112914200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:112913200-112914400	Enhancers	Brain Substantia Nigra	brain
42	chr2:112913200-112914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:112913200-112914600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:112913200-112914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:112913200-112914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:112913200-112914600	Enhancers	GM12878-XiMat	blood
47	chr2:112913200-112915200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:112913400-112914000	Enhancers	Osteobl	bone
49	chr2:112913400-112914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:112913400-112914200	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links