Variant report

Variant	rs11694654
Chromosome Location	chr2:234332343-234332344
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	chr2:234184818..234186682-chr2:234331871..234334503,2	MCF-7	breast:
3	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
4	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
5	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:
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
ENSG00000085978	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11681704	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11694406	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753242	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980338	0.87[EUR][1000 genomes]
rs7587876	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7597465	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:99 , 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	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:234328800-234343000	Weak transcription	Liver	Liver
13	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
16	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
17	chr2:234329200-234332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
19	chr2:234329200-234335000	Weak transcription	Osteobl	bone
20	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:234329400-234333000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
28	chr2:234330000-234333000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:234330000-234333000	Enhancers	Stomach Mucosa	stomach
30	chr2:234330000-234333600	Genic enhancers	Fetal Muscle Leg	muscle
31	chr2:234330000-234333800	Enhancers	Fetal Intestine Large	intestine
32	chr2:234330200-234334000	Enhancers	Fetal Heart	heart
33	chr2:234330400-234332400	Enhancers	Fetal Intestine Small	intestine
34	chr2:234330400-234333400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:234330400-234333600	Enhancers	Left Ventricle	heart
36	chr2:234330600-234332600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:234330800-234332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:234330800-234334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:234330800-234335400	Weak transcription	Small Intestine	intestine
40	chr2:234330800-234336800	Weak transcription	Ovary	ovary
41	chr2:234330800-234337800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:234331000-234332600	Weak transcription	Spleen	Spleen
44	chr2:234331000-234333000	Weak transcription	Placenta	Placenta
45	chr2:234331000-234333200	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:234331000-234333400	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:234331200-234332600	Weak transcription	Right Atrium	heart
50	chr2:234331200-234332600	Weak transcription	HMEC	breast

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