Variant report

Variant	rs197920
Chromosome Location	chr17:45005095-45005096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr17:45004983-45005198	K562	blood:	n/a	chr17:45005104-45005116
2	YY1	chr17:45004922-45005237	H1-hESC	embryonic stem cell:	n/a	chr17:45005104-45005116

No.	Distal block	Cell Line	Cell type
1	chr17:45003530..45006692-chr17:45016648..45018948,3	K562	blood:
2	chr17:45004362..45006941-chr17:45070896..45073803,2	MCF-7	breast:
3	chr17:44848363..44849947-chr17:45003750..45005877,2	K562	blood:
4	chr17:45001648..45005787-chr17:45021612..45024553,3	K562	blood:
5	chr17:44917356..44918893-chr17:45002480..45005185,2	K562	blood:

Variant related genes	Relation type
ENSG00000261886	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10853086	0.85[EUR][1000 genomes]
rs11079744	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11655668	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs1662596	0.91[YRI][hapmap]
rs1838105	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs197922	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs197923	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2072317	0.81[EUR][1000 genomes]
rs3885731	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3890958	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8065527	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs197920	GOSR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45001200-45005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:45001200-45005400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:45001200-45011400	Weak transcription	Fetal Brain Male	brain
4	chr17:45001400-45005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:45001400-45005200	Weak transcription	Colonic Mucosa	Colon
6	chr17:45001400-45005400	Weak transcription	Esophagus	oesophagus
7	chr17:45001400-45005400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:45001400-45006800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:45001400-45006800	Weak transcription	Placenta	Placenta
10	chr17:45001400-45007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:45001400-45009400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:45001600-45005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45001600-45005400	Weak transcription	Fetal Stomach	stomach
14	chr17:45001600-45005800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr17:45001600-45005800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:45001600-45006000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:45001600-45008200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:45001600-45008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:45001600-45020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:45001800-45005200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:45001800-45005600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:45001800-45006000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:45001800-45007000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:45001800-45007200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:45001800-45008200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:45001800-45008200	Weak transcription	HSMMtube	muscle
27	chr17:45002000-45005200	Weak transcription	Primary B cells from cord blood	blood
28	chr17:45002000-45005200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr17:45002000-45005400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:45002000-45005400	Weak transcription	Right Ventricle	heart
31	chr17:45002000-45005400	Weak transcription	NHLF	lung
32	chr17:45002000-45005800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr17:45002000-45006200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45002000-45006200	Weak transcription	NH-A	brain
35	chr17:45002000-45006400	Weak transcription	NHDF-Ad	bronchial
36	chr17:45002000-45006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:45002000-45006800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:45002000-45007000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:45002000-45007000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:45002000-45007600	Weak transcription	Brain Substantia Nigra	brain
41	chr17:45002000-45008400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr17:45002000-45008400	Weak transcription	Brain Angular Gyrus	brain
43	chr17:45002000-45021000	Weak transcription	Fetal Heart	heart
44	chr17:45002200-45005200	Weak transcription	Psoas Muscle	Psoas
45	chr17:45002200-45005600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:45002200-45005600	Enhancers	Dnd41	blood
47	chr17:45002200-45006000	Weak transcription	Hela-S3	cervix
48	chr17:45002200-45006600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:45002200-45006600	Weak transcription	Fetal Kidney	kidney
50	chr17:45002200-45006600	Weak transcription	Rectal Mucosa Donor 29	rectum

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