Variant report

Variant	rs7811164
Chromosome Location	chr7:2822416-2822417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2795883..2797584-chr7:2821948..2824040,2	K562	blood:
2	chr7:2820643..2823632-chr7:2824452..2826703,2	K562	blood:
3	chr7:2815376..2818308-chr7:2821717..2825874,3	K562	blood:
4	chr7:2808555..2810059-chr7:2820256..2822497,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11761804	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11764225	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11765492	0.83[EUR][1000 genomes]
rs11765726	0.86[AMR][1000 genomes]
rs11769532	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11772508	0.83[EUR][1000 genomes]
rs11971014	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12540539	0.88[AMR][1000 genomes]
rs17132594	0.89[EUR][1000 genomes]
rs17132624	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17132636	1.00[ASN][1000 genomes]
rs17132643	1.00[ASN][1000 genomes]
rs17132663	1.00[ASN][1000 genomes]
rs17132665	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17132741	0.90[AMR][1000 genomes]
rs17132744	0.86[AMR][1000 genomes]
rs17241904	0.88[AMR][1000 genomes]
rs17300022	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35341157	1.00[ASN][1000 genomes]
rs36113116	1.00[ASN][1000 genomes]
rs55726557	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55767077	0.91[EUR][1000 genomes]
rs55776032	0.83[EUR][1000 genomes]
rs55832916	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56007918	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56208415	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56356906	0.91[EUR][1000 genomes]
rs56399783	0.83[EUR][1000 genomes]
rs6461600	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945135	0.85[AMR][1000 genomes]
rs6962049	1.00[ASN][1000 genomes]
rs6964740	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967664	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73033403	0.84[AMR][1000 genomes]
rs73033407	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73033408	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73047368	0.83[EUR][1000 genomes]
rs73047387	0.91[EUR][1000 genomes]
rs73047393	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73049305	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049327	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73049331	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73049341	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73049362	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049380	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73051415	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73051444	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73051469	0.84[AMR][1000 genomes]
rs757788	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7803944	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7804264	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9770108	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv2761071	chr7:2811338-2822933	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:2803200-2822600	Weak transcription	Right Ventricle	heart
13	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:2803600-2822600	Weak transcription	Left Ventricle	heart
15	chr7:2803600-2824200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:2803800-2823800	Weak transcription	NH-A	brain
18	chr7:2803800-2824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
22	chr7:2811400-2824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:2811600-2824200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:2813800-2825200	Weak transcription	HSMM	muscle
26	chr7:2813800-2829200	Weak transcription	Esophagus	oesophagus
27	chr7:2814000-2822600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:2814200-2823800	Weak transcription	Lung	lung
29	chr7:2814400-2838800	Weak transcription	K562	blood
30	chr7:2814600-2824200	Weak transcription	Fetal Kidney	kidney
31	chr7:2815000-2822800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:2815000-2825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:2815600-2822600	Weak transcription	Brain Germinal Matrix	brain
34	chr7:2815600-2829200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:2815600-2831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:2815800-2824200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:2815800-2824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:2815800-2840600	Weak transcription	Fetal Brain Male	brain
39	chr7:2816000-2824200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:2816200-2822600	Weak transcription	Pancreas	Pancrea
41	chr7:2816200-2828000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:2816200-2831600	Weak transcription	Brain Angular Gyrus	brain
43	chr7:2816400-2825600	Weak transcription	Gastric	stomach
44	chr7:2816400-2825800	Weak transcription	Fetal Brain Female	brain
45	chr7:2816400-2826400	Weak transcription	Spleen	Spleen
46	chr7:2816400-2831600	Weak transcription	Brain Substantia Nigra	brain
47	chr7:2816600-2824800	Weak transcription	Fetal Lung	lung
48	chr7:2816600-2825800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:2816600-2826400	Weak transcription	Liver	Liver
50	chr7:2816800-2822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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