Variant report

Variant	rs7796977
Chromosome Location	chr7:66320479-66320480
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	chr7:66318937..66321564-chr7:66322590..66324389,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10156059	0.85[EUR][1000 genomes]
rs10224189	0.87[EUR][1000 genomes]
rs10224536	1.00[CEU][hapmap]
rs10226191	0.87[EUR][1000 genomes]
rs10231411	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234322	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10234640	0.87[EUR][1000 genomes]
rs10234747	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10235334	0.87[YRI][hapmap]
rs10235423	0.84[TSI][hapmap]
rs10235638	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10241395	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10241528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10242870	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244459	1.00[CEU][hapmap]
rs10245017	0.87[EUR][1000 genomes]
rs10247815	0.85[EUR][1000 genomes]
rs10250124	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10257393	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10258628	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10263993	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10264873	0.84[TSI][hapmap];0.87[YRI][hapmap]
rs10265069	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10266792	0.83[EUR][1000 genomes]
rs10267253	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267834	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10278343	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10280816	0.83[EUR][1000 genomes]
rs10281090	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10282310	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10282522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10479728	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1060527	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1064795	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12234826	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12532805	0.84[TSI][hapmap];0.87[YRI][hapmap]
rs12534188	0.86[ASW][hapmap];0.86[LWK][hapmap];0.84[TSI][hapmap]
rs12534948	0.84[TSI][hapmap]
rs13437994	0.83[EUR][1000 genomes]
rs13438432	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17138017	1.00[YRI][hapmap]
rs17138274	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs17680606	0.86[ASW][hapmap];0.86[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs17680708	0.86[TSI][hapmap]
rs17747927	0.88[EUR][1000 genomes]
rs17748115	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs17748222	0.91[TSI][hapmap]
rs2013707	0.82[EUR][1000 genomes]
rs2091315	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs28368585	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28460006	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28472679	0.85[EUR][1000 genomes]
rs28501161	0.85[EUR][1000 genomes]
rs28533332	0.81[AFR][1000 genomes]
rs28560293	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28641990	0.85[EUR][1000 genomes]
rs28675035	1.00[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs3778907	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3778908	0.81[AFR][1000 genomes]
rs3778914	0.84[TSI][hapmap]
rs3778916	0.87[YRI][hapmap]
rs3800814	0.81[AFR][1000 genomes]
rs3800818	1.00[CEU][hapmap]
rs3823607	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3823609	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382352	0.87[YRI][hapmap]
rs4617036	0.84[TSI][hapmap];0.87[YRI][hapmap]
rs4718417	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57774708	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57875851	0.87[EUR][1000 genomes]
rs59693594	0.83[EUR][1000 genomes]
rs60026498	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60972148	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67408913	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6971508	0.91[TSI][hapmap]
rs6974601	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71526586	0.81[EUR][1000 genomes]
rs73133851	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73139941	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73139976	0.81[EUR][1000 genomes]
rs73141980	0.87[EUR][1000 genomes]
rs73143921	0.84[EUR][1000 genomes]
rs73143998	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73145924	0.83[EUR][1000 genomes]
rs7455757	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7777631	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785883	0.82[EUR][1000 genomes]
rs7809359	0.85[EUR][1000 genomes]
rs7809535	0.85[EUR][1000 genomes]
rs868960	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7796977	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs7796977	ZNF273	cis	parietal	SCAN
rs7796977	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs7796977	GUSB	cis	cerebellum	SCAN
rs7796977	CRCP	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:66310800-66331600	Weak transcription	Ovary	ovary
5	chr7:66311000-66322400	Weak transcription	Placenta	Placenta
6	chr7:66311000-66323400	Weak transcription	Lung	lung
7	chr7:66311000-66323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:66311000-66323600	Weak transcription	Primary T cells from cord blood	blood
9	chr7:66311000-66324200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:66311000-66324400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:66311000-66324600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:66311000-66324600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:66311000-66324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:66311000-66324600	Weak transcription	Left Ventricle	heart
15	chr7:66311000-66324600	Weak transcription	Psoas Muscle	Psoas
16	chr7:66311000-66324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:66311000-66324800	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:66311000-66324800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:66311000-66325200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
22	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
24	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
26	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:66311200-66322000	Weak transcription	Liver	Liver
29	chr7:66311200-66322600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:66311200-66322800	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:66311200-66323600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:66311200-66324000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:66311200-66324200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:66311200-66324200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:66311200-66324600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:66311200-66324600	Weak transcription	Esophagus	oesophagus
37	chr7:66311200-66324600	Weak transcription	Pancreas	Pancrea
38	chr7:66311200-66324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:66311200-66324800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:66311200-66324800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:66311200-66324800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:66311200-66324800	Weak transcription	Right Ventricle	heart
43	chr7:66311200-66324800	Weak transcription	Spleen	Spleen
44	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:66311400-66324800	Weak transcription	Gastric	stomach
47	chr7:66311600-66324600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:66311600-66334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:66311800-66324800	Weak transcription	Dnd41	blood
50	chr7:66312200-66322600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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