Variant report

Variant	rs17100600
Chromosome Location	chr12:65108531-65108532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65108036..65110835-chr12:65117399..65119651,3	MCF-7	breast:
2	chr12:65108295..65111554-chr12:65113705..65115362,3	K562	blood:
3	chr12:65107946..65110017-chr12:65116445..65118854,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17100604	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100611	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100618	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap]
rs17100633	0.93[MKK][hapmap]
rs17100642	0.93[MKK][hapmap]
rs17100671	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs17100696	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs17100705	1.00[ASW][hapmap]
rs17100711	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs17100715	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs73323431	0.83[AMR][1000 genomes]
rs73323436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17100600	ENSG00000135677	cis	multi-tissue	Pritchard
rs17100600	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
3	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:65089000-65109400	Weak transcription	Ovary	ovary
5	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
6	chr12:65089600-65109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:65089600-65109600	Weak transcription	Gastric	stomach
8	chr12:65089600-65109600	Weak transcription	NHLF	lung
9	chr12:65089600-65109800	Weak transcription	Thymus	Thymus
10	chr12:65089600-65113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:65089800-65113200	Weak transcription	Right Ventricle	heart
12	chr12:65090200-65108600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:65090200-65109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:65090200-65109800	Weak transcription	K562	blood
15	chr12:65090200-65114600	Weak transcription	Aorta	Aorta
16	chr12:65090400-65115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:65091000-65109200	Weak transcription	Hela-S3	cervix
18	chr12:65095400-65109600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:65095600-65109800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:65095600-65117400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:65096000-65108800	Weak transcription	Fetal Thymus	thymus
22	chr12:65096200-65117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:65096400-65109400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:65096800-65110400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:65100400-65113400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:65100600-65109600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:65100800-65108600	Weak transcription	Left Ventricle	heart
28	chr12:65100800-65109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:65100800-65109800	Weak transcription	HUVEC	blood vessel
30	chr12:65100800-65114800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:65101000-65109600	Weak transcription	Spleen	Spleen
32	chr12:65101200-65108800	Weak transcription	HSMMtube	muscle
33	chr12:65101200-65109600	Weak transcription	HepG2	liver
34	chr12:65101200-65109800	Weak transcription	NHEK	skin
35	chr12:65101400-65109800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:65101800-65109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:65101800-65109600	Weak transcription	Psoas Muscle	Psoas
38	chr12:65102800-65109600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:65103400-65109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:65103400-65109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:65103400-65123000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:65103800-65109400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:65104600-65108600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:65104800-65120800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:65105000-65109200	Weak transcription	NHDF-Ad	bronchial
46	chr12:65105400-65118600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:65105800-65122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:65106000-65115000	Strong transcription	Adipose Nuclei	Adipose
49	chr12:65106000-65116000	Weak transcription	Small Intestine	intestine
50	chr12:65106200-65109600	Strong transcription	Fetal Intestine Large	intestine

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