Variant report

Variant	rs11678464
Chromosome Location	chr2:9922073-9922074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9909947..9912173-chr2:9920104..9922544,2	MCF-7	breast:
2	chr2:9920726..9922513-chr2:10283585..10286351,2	K562	blood:
3	chr2:9769330..9771189-chr2:9920813..9922392,2	MCF-7	breast:
4	chr2:9921109..9922678-chr2:9930407..9932418,2	K562	blood:
5	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
6	chr2:9921109..9926354-chr2:9930407..9935197,5	K562	blood:
7	chr2:9920939..9923701-chr2:9941195..9943026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34227771	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34533032	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
3	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
5	chr2:9917800-9923600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9918000-9922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:9918000-9923400	Enhancers	Fetal Intestine Large	intestine
8	chr2:9918000-9923400	Enhancers	Fetal Intestine Small	intestine
9	chr2:9918200-9924000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:9918400-9922600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:9918600-9923600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:9919000-9922600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:9919000-9923400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:9919200-9922200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:9919400-9922600	Enhancers	GM12878-XiMat	blood
16	chr2:9919400-9927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:9919800-9922600	Bivalent Enhancer	HepG2	liver
18	chr2:9919800-9923400	Enhancers	Placenta	Placenta
19	chr2:9920200-9922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:9920200-9923000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:9920200-9923400	Enhancers	HMEC	breast
22	chr2:9920200-9924000	Enhancers	Primary T cells from cord blood	blood
23	chr2:9920400-9922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:9920400-9922600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:9920400-9922600	Weak transcription	Adipose Nuclei	Adipose
26	chr2:9920600-9922200	Enhancers	NHEK	skin
27	chr2:9920600-9924200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:9920800-9922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:9920800-9923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:9921000-9922200	Weak transcription	Fetal Thymus	thymus
31	chr2:9921000-9923200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:9921000-9923400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:9921200-9922400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:9921200-9922600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:9921400-9922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:9921400-9922600	Weak transcription	Esophagus	oesophagus
37	chr2:9921600-9922800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:9921600-9923400	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:9922000-9923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:9922000-9923600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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