Variant report

Variant	rs11694406
Chromosome Location	chr2:234331810-234331811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234327625..234329207-chr2:234329605..234332542,2	MCF-7	breast:
2	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
3	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
4	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:
5	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:
6	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
7	chr2:234330110..234332906-chr2:234472869..234475585,2	MCF-7	breast:
8	chr2:234331430..234332983-chr2:234364187..234366642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1000548	0.86[JPT][hapmap]
rs1046976	1.00[CHB][hapmap]
rs10803619	0.86[JPT][hapmap]
rs10929178	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11675254	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11675858	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs11676524	1.00[CHB][hapmap]
rs11679064	0.86[JPT][hapmap]
rs11681704	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11682236	0.86[JPT][hapmap]
rs11686188	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11694654	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890449	0.86[JPT][hapmap]
rs3754595	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3796092	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs3820744	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3828307	1.00[CHB][hapmap]
rs3828308	0.86[JPT][hapmap]
rs56266844	0.81[EUR][1000 genomes]
rs56336977	0.81[EUR][1000 genomes]
rs6704644	1.00[CHB][hapmap]
rs6719241	0.86[JPT][hapmap]
rs6746234	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6750618	0.81[EUR][1000 genomes]
rs6753242	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980338	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72980361	0.81[EUR][1000 genomes]
rs7564805	0.86[JPT][hapmap]
rs7565275	0.86[JPT][hapmap]
rs7583380	0.85[JPT][hapmap]
rs7585217	0.86[JPT][hapmap]
rs7587876	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7597465	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598771	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:234328800-234343000	Weak transcription	Liver	Liver
14	chr2:234329000-234332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
18	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
19	chr2:234329200-234332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
21	chr2:234329200-234335000	Weak transcription	Osteobl	bone
22	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
23	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:234329400-234333000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
30	chr2:234330000-234332000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:234330000-234332200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:234330000-234333000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:234330000-234333000	Enhancers	Stomach Mucosa	stomach
34	chr2:234330000-234333600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr2:234330000-234333800	Enhancers	Fetal Intestine Large	intestine
36	chr2:234330200-234334000	Enhancers	Fetal Heart	heart
37	chr2:234330400-234332200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:234330400-234332400	Enhancers	Fetal Intestine Small	intestine
39	chr2:234330400-234333400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr2:234330400-234333600	Enhancers	Left Ventricle	heart
41	chr2:234330600-234332000	Enhancers	K562	blood
42	chr2:234330600-234332200	Enhancers	Pancreas	Pancrea
43	chr2:234330600-234332600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:234330800-234332000	Weak transcription	Colonic Mucosa	Colon
45	chr2:234330800-234332000	Weak transcription	Gastric	stomach
46	chr2:234330800-234332200	Weak transcription	Fetal Stomach	stomach
47	chr2:234330800-234332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:234330800-234334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:234330800-234335400	Weak transcription	Small Intestine	intestine
50	chr2:234330800-234336800	Weak transcription	Ovary	ovary

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