Variant report

Variant	rs11164960
Chromosome Location	chr1:94135053-94135054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94133319..94135815-chr1:94145818..94148739,4	MCF-7	breast:
2	chr1:94134360..94137272-chr1:94311581..94314212,2	MCF-7	breast:
3	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction

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

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

rs_ID	r²[population]
rs11164952	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961375	1.00[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
2	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:94123200-94135800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:94127400-94143800	Genic enhancers	HMEC	breast
5	chr1:94127400-94144000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94128800-94137800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:94129000-94137000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:94129200-94144800	Weak transcription	GM12878-XiMat	blood
9	chr1:94129400-94137600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:94130800-94141000	Genic enhancers	HSMM	muscle
11	chr1:94131000-94138000	Weak transcription	Fetal Brain Male	brain
12	chr1:94131200-94136200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:94131200-94136200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:94131200-94144000	Genic enhancers	Placenta	Placenta
15	chr1:94131400-94135800	Weak transcription	Aorta	Aorta
16	chr1:94131400-94136400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94131400-94137000	Genic enhancers	A549	lung
18	chr1:94131400-94140600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94131600-94136200	Weak transcription	Fetal Lung	lung
20	chr1:94131600-94143800	Genic enhancers	NHEK	skin
21	chr1:94131800-94140400	Genic enhancers	NHDF-Ad	bronchial
22	chr1:94132400-94139600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:94132600-94135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:94132600-94135800	Weak transcription	K562	blood
25	chr1:94132800-94135800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:94132800-94137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:94132800-94137800	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr1:94132800-94137800	Weak transcription	Pancreas	Pancrea
29	chr1:94132800-94138000	Weak transcription	Fetal Kidney	kidney
30	chr1:94132800-94138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:94132800-94141000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:94132800-94141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94132800-94141800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:94132800-94142400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:94132800-94142600	Enhancers	Adipose Nuclei	Adipose
36	chr1:94132800-94144600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:94133000-94135800	Weak transcription	Spleen	Spleen
38	chr1:94133000-94136400	Enhancers	Stomach Mucosa	stomach
39	chr1:94133000-94137800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:94133000-94137800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:94133000-94141600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:94133000-94142000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:94133400-94136800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:94133400-94137800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94133400-94138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:94133400-94141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:94133600-94135200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:94133600-94135200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:94134000-94135800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:94134000-94136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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