Variant report

Variant	rs73096571
Chromosome Location	chr12:40010270-40010271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40005732..40008128-chr12:40008934..40010953,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1567738	1.00[AMR][1000 genomes]
rs58831669	0.85[AFR][1000 genomes]
rs60093332	0.85[AFR][1000 genomes]
rs7305817	0.81[AFR][1000 genomes]
rs73086887	1.00[AMR][1000 genomes]
rs73086888	1.00[AMR][1000 genomes]
rs73086895	1.00[AMR][1000 genomes]
rs73086896	1.00[AMR][1000 genomes]
rs73087812	0.85[AFR][1000 genomes]
rs73087865	0.85[AFR][1000 genomes]
rs73088803	1.00[AMR][1000 genomes]
rs73088804	1.00[AMR][1000 genomes]
rs73088806	1.00[AMR][1000 genomes]
rs73088808	1.00[AMR][1000 genomes]
rs73088811	1.00[AMR][1000 genomes]
rs73088812	1.00[AMR][1000 genomes]
rs73092112	0.80[AFR][1000 genomes]
rs73094416	1.00[AMR][1000 genomes]
rs73094426	1.00[AMR][1000 genomes]
rs73094430	1.00[AMR][1000 genomes]
rs73094441	1.00[AMR][1000 genomes]
rs73094443	1.00[AMR][1000 genomes]
rs73094451	1.00[AMR][1000 genomes]
rs73094465	1.00[AMR][1000 genomes]
rs73094466	1.00[AMR][1000 genomes]
rs73094469	1.00[AMR][1000 genomes]
rs73094480	1.00[AMR][1000 genomes]
rs73094482	1.00[AMR][1000 genomes]
rs73094497	1.00[AMR][1000 genomes]
rs73094498	1.00[AMR][1000 genomes]
rs73094499	1.00[AMR][1000 genomes]
rs73094502	1.00[AMR][1000 genomes]
rs73095613	0.85[AFR][1000 genomes]
rs73095657	0.85[AFR][1000 genomes]
rs73096503	1.00[AMR][1000 genomes]
rs73096504	1.00[AMR][1000 genomes]
rs73096507	1.00[AMR][1000 genomes]
rs73096509	1.00[AMR][1000 genomes]
rs73096513	1.00[AMR][1000 genomes]
rs73096521	1.00[AMR][1000 genomes]
rs73096524	1.00[AMR][1000 genomes]
rs73096528	1.00[AMR][1000 genomes]
rs73096539	1.00[AMR][1000 genomes]
rs73096542	1.00[AMR][1000 genomes]
rs73096551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098557	0.85[AFR][1000 genomes]
rs73098572	0.85[AFR][1000 genomes]
rs73098577	0.85[AFR][1000 genomes]
rs73098599	0.85[AFR][1000 genomes]
rs73102528	0.85[AFR][1000 genomes]
rs73102537	0.85[AFR][1000 genomes]
rs73102556	0.81[AFR][1000 genomes]
rs73102559	0.81[AFR][1000 genomes]
rs73102562	0.81[AFR][1000 genomes]
rs73102575	0.80[AFR][1000 genomes]
rs7311368	0.85[AFR][1000 genomes]
rs7962740	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv899020	chr12:39985206-40040331	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899021	chr12:39989172-40053423	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40005000-40012200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:40006800-40015000	Active TSS	GM12878-XiMat	blood
3	chr12:40007600-40012400	Active TSS	Adipose Nuclei	Adipose
4	chr12:40008000-40012600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:40009400-40010600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:40009400-40010800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:40009400-40010800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:40009400-40011000	Active TSS	Brain Cingulate Gyrus	brain
9	chr12:40009400-40012400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr12:40009400-40015400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:40009600-40010800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr12:40009600-40010800	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:40009600-40011000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:40009600-40014800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:40009600-40015000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr12:40009800-40010400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:40009800-40010400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:40009800-40010600	Active TSS	Brain Anterior Caudate	brain
19	chr12:40009800-40010800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:40009800-40011400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr12:40009800-40014800	Active TSS	Brain Angular Gyrus	brain
22	chr12:40009800-40015000	Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:40009800-40015000	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:40009800-40015200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:40009800-40015200	Active TSS	Right Atrium	heart
26	chr12:40010000-40010600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:40010000-40010800	Active TSS	Brain Hippocampus Middle	brain
28	chr12:40010000-40011400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:40010000-40012400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:40010000-40012600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:40010000-40012600	Active TSS	Stomach Smooth Muscle	stomach
32	chr12:40010000-40012800	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:40010200-40010400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:40010200-40010400	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr12:40010200-40010400	Flanking Active TSS	Fetal Brain Male	brain
36	chr12:40010200-40010600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:40010200-40010800	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:40010200-40010800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:40010200-40010800	Active TSS	Colonic Mucosa	Colon
40	chr12:40010200-40010800	Active TSS	Left Ventricle	heart
41	chr12:40010200-40011000	Flanking Active TSS	Fetal Brain Female	brain
42	chr12:40010200-40014600	Active TSS	Brain Germinal Matrix	brain

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