Variant report

Variant	rs6705295
Chromosome Location	chr2:55914009-55914010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
2	chr2:55912617..55915490-chr2:55920538..55922128,2	MCF-7	breast:
3	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
4	chr2:55906258..55908456-chr2:55912451..55914815,2	K562	blood:

Variant related genes	Relation type
ENSG00000138035	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10172181	0.83[AMR][1000 genomes]
rs10172506	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10173150	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10182131	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10194634	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10200159	0.84[AMR][1000 genomes]
rs10204169	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1045920	0.84[AMR][1000 genomes]
rs10496044	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11902712	0.89[AMR][1000 genomes]
rs12615063	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12616982	0.89[AMR][1000 genomes]
rs12622830	0.82[EUR][1000 genomes]
rs12623625	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13382187	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13383352	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13399762	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13400946	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13407344	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13420929	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13428382	0.84[AMR][1000 genomes]
rs13428486	0.84[AMR][1000 genomes]
rs13430684	0.89[AMR][1000 genomes]
rs17047119	0.84[AMR][1000 genomes]
rs2867964	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6545512	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545513	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6712314	0.84[AMR][1000 genomes]
rs6725101	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6739788	0.83[ASN][1000 genomes]
rs7558127	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7567115	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7575906	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586115	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7586124	0.84[AMR][1000 genomes]
rs7586366	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7594212	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7594497	0.89[AMR][1000 genomes]
rs9309267	0.83[AMR][1000 genomes]
rs9309268	0.83[AMR][1000 genomes]

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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2760573	chr2:55903016-55941440	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv9802	chr2:55910254-55939253	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv16137	chr2:55910848-55938746	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
3	chr2:55864400-55919600	Weak transcription	NHLF	lung
4	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
8	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
9	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
10	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
11	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
14	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:55890400-55914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:55892600-55917000	Strong transcription	Dnd41	blood
19	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:55895800-55920000	Weak transcription	Right Ventricle	heart
22	chr2:55897000-55914400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:55897600-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:55901200-55915000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:55901200-55915200	Strong transcription	GM12878-XiMat	blood
26	chr2:55901800-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:55901800-55916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:55902000-55915200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:55902000-55916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:55903200-55915800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:55903400-55914200	Strong transcription	Adipose Nuclei	Adipose
32	chr2:55903600-55914200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:55903600-55915800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:55904000-55914200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:55904200-55916400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:55904200-55920600	Weak transcription	Stomach Mucosa	stomach
37	chr2:55904600-55920200	Weak transcription	Gastric	stomach
38	chr2:55905000-55914200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:55905000-55915000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:55905000-55915600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:55905200-55914200	Strong transcription	Primary T cells from cord blood	blood
42	chr2:55905200-55914400	Strong transcription	Fetal Intestine Large	intestine
43	chr2:55905200-55914600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:55905200-55916000	Strong transcription	Liver	Liver
45	chr2:55906800-55915800	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:55907200-55915800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:55907400-55920000	Weak transcription	Fetal Kidney	kidney
48	chr2:55907600-55919800	Weak transcription	NHDF-Ad	bronchial
49	chr2:55907800-55919800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:55908400-55915200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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