Variant report

Variant	rs17110252
Chromosome Location	chr1:94129534-94129535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94129100..94132031-chr1:94310958..94313015,2	K562	blood:
2	chr1:94127629..94130462-chr1:94131562..94133836,2	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17110195	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110198	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110298	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236268	0.89[EUR][1000 genomes]
rs41292657	1.00[ASN][1000 genomes]
rs56072327	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369705	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57866435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59232020	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101645	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101646	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101653	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74101655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101673	1.00[ASN][1000 genomes]
rs74101674	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	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:96 , 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	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
4	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:94123200-94135800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:94126200-94131200	Enhancers	Placenta	Placenta
8	chr1:94126200-94134600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:94126800-94129800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:94127000-94132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:94127000-94133600	Enhancers	Ovary	ovary
12	chr1:94127200-94134000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:94127400-94129800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94127400-94130400	Genic enhancers	NHEK	skin
15	chr1:94127400-94130600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:94127400-94130600	Enhancers	Fetal Intestine Small	intestine
17	chr1:94127400-94131200	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:94127400-94131200	Enhancers	Fetal Intestine Large	intestine
19	chr1:94127400-94132000	Enhancers	K562	blood
20	chr1:94127400-94132800	Enhancers	Brain Anterior Caudate	brain
21	chr1:94127400-94133600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:94127400-94143800	Genic enhancers	HMEC	breast
23	chr1:94127400-94144000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:94127600-94130600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:94127600-94130600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:94127600-94131000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:94127600-94131000	Enhancers	Brain Angular Gyrus	brain
28	chr1:94127800-94130200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:94127800-94134000	Enhancers	Colon Smooth Muscle	Colon
30	chr1:94128200-94129600	Transcr. at gene 5' and 3'	A549	lung
31	chr1:94128200-94131000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:94128400-94129600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:94128400-94130400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:94128400-94130400	Weak transcription	Small Intestine	intestine
35	chr1:94128400-94130600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:94128400-94134200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:94128600-94129600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:94128600-94130000	Bivalent Enhancer	Fetal Heart	heart
39	chr1:94128600-94130200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:94128600-94130600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:94128600-94130600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:94128600-94132200	Enhancers	HSMMtube	muscle
43	chr1:94128800-94129600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
44	chr1:94128800-94129600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:94128800-94129600	Enhancers	Spleen	Spleen
46	chr1:94128800-94129600	Genic enhancers	HUVEC	blood vessel
47	chr1:94128800-94129600	Genic enhancers	NHDF-Ad	bronchial
48	chr1:94128800-94129800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:94128800-94130200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:94128800-94131800	Enhancers	Right Ventricle	heart

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