Variant report

Variant	rs4669454
Chromosome Location	chr2:9909114-9909115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9895791..9898200-chr2:9907765..9909723,2	MCF-7	breast:
2	chr2:9694937..9699400-chr2:9908606..9911252,4	K562	blood:
3	chr2:9909026..9912481-chr2:10259443..10262566,4	K562	blood:
4	chr2:9907890..9909492-chr2:9937494..9939085,2	MCF-7	breast:
5	chr2:9907009..9909399-chr2:10572837..10575430,2	K562	blood:

Variant related genes	Relation type
ENSG00000271855	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10929612	0.82[CHB][hapmap]
rs11674480	0.82[YRI][hapmap]
rs2357267	0.89[YRI][hapmap]
rs2884142	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9899400-9909200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:9900400-9909400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:9901800-9910200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:9903000-9911800	Enhancers	Fetal Intestine Small	intestine
7	chr2:9903200-9912000	Enhancers	Fetal Intestine Large	intestine
8	chr2:9903600-9910400	Weak transcription	Psoas Muscle	Psoas
9	chr2:9903600-9910800	Weak transcription	Left Ventricle	heart
10	chr2:9904200-9909400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:9904200-9909600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:9904200-9910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:9904800-9910400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:9904800-9910400	Weak transcription	Hela-S3	cervix
15	chr2:9905000-9909200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:9905000-9910000	Weak transcription	Fetal Kidney	kidney
17	chr2:9905000-9910200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:9905200-9913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:9905600-9909800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:9906200-9909600	Weak transcription	Fetal Brain Male	brain
21	chr2:9906200-9912000	Enhancers	Fetal Thymus	thymus
22	chr2:9906400-9909800	Enhancers	Primary B cells from cord blood	blood
23	chr2:9906400-9910600	Weak transcription	Small Intestine	intestine
24	chr2:9906600-9909600	Weak transcription	Fetal Lung	lung
25	chr2:9906800-9909400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:9906800-9909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:9906800-9909800	Weak transcription	Placenta	Placenta
28	chr2:9906800-9910400	Weak transcription	Lung	lung
29	chr2:9906800-9910400	Weak transcription	Right Atrium	heart
30	chr2:9906800-9910400	Weak transcription	Right Ventricle	heart
31	chr2:9906800-9910400	Weak transcription	A549	lung
32	chr2:9907000-9909600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:9907200-9910200	Weak transcription	NHEK	skin
34	chr2:9907400-9909600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:9907600-9911200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:9907600-9913600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:9907800-9910000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:9907800-9910400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:9907800-9911200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:9907800-9912000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:9908000-9909400	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr2:9908000-9909600	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:9908000-9911000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:9908000-9911000	Enhancers	GM12878-XiMat	blood
45	chr2:9908000-9911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:9908000-9911200	Enhancers	Pancreas	Pancrea
47	chr2:9908000-9911200	Enhancers	Spleen	Spleen
48	chr2:9908000-9912200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr2:9908000-9912400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:9908000-9912600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links