Variant report

Variant	rs73592217
Chromosome Location	chr8:52753317-52753318
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	chr8:52751299..52753648-chr8:52756070..52758839,2	K562	blood:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10113123	1.00[EUR][1000 genomes]
rs10504129	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11987250	1.00[EUR][1000 genomes]
rs11988429	1.00[EUR][1000 genomes]
rs11990522	1.00[EUR][1000 genomes]
rs11990974	1.00[EUR][1000 genomes]
rs11994304	1.00[EUR][1000 genomes]
rs11995501	1.00[EUR][1000 genomes]
rs11997646	1.00[EUR][1000 genomes]
rs12549663	1.00[EUR][1000 genomes]
rs12675655	1.00[EUR][1000 genomes]
rs12679326	1.00[EUR][1000 genomes]
rs4373509	1.00[EUR][1000 genomes]
rs4573264	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58605516	1.00[EUR][1000 genomes]
rs59153374	1.00[EUR][1000 genomes]
rs59373752	1.00[EUR][1000 genomes]
rs6473639	1.00[EUR][1000 genomes]
rs6473640	1.00[EUR][1000 genomes]
rs6990860	1.00[EUR][1000 genomes]
rs7000576	1.00[EUR][1000 genomes]
rs7012129	1.00[EUR][1000 genomes]
rs7015699	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73574281	1.00[EUR][1000 genomes]
rs73574290	1.00[EUR][1000 genomes]
rs73574293	1.00[EUR][1000 genomes]
rs73576204	1.00[EUR][1000 genomes]
rs73576207	1.00[EUR][1000 genomes]
rs73576208	1.00[EUR][1000 genomes]
rs73580258	1.00[EUR][1000 genomes]
rs73580281	1.00[EUR][1000 genomes]
rs73580289	1.00[EUR][1000 genomes]
rs73580296	1.00[EUR][1000 genomes]
rs73580301	1.00[EUR][1000 genomes]
rs73590408	1.00[EUR][1000 genomes]
rs73592223	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73592239	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7816154	1.00[EUR][1000 genomes]
rs7831461	1.00[EUR][1000 genomes]
rs7832049	1.00[EUR][1000 genomes]
rs7834322	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7838681	1.00[EUR][1000 genomes]
rs9643786	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS 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 lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52722000-52771400	Weak transcription	Gastric	stomach
2	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:52731200-52763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:52731400-52753400	Weak transcription	NHDF-Ad	bronchial
7	chr8:52732800-52753600	Weak transcription	Osteobl	bone
8	chr8:52733200-52758800	Weak transcription	Small Intestine	intestine
9	chr8:52733200-52763600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:52733400-52757200	Weak transcription	Colonic Mucosa	Colon
12	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
13	chr8:52734200-52761600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:52735400-52753400	Weak transcription	HUVEC	blood vessel
15	chr8:52735600-52753800	Weak transcription	HSMM	muscle
16	chr8:52735600-52763600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
18	chr8:52735800-52753600	Weak transcription	Hela-S3	cervix
19	chr8:52735800-52763400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:52736000-52753600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:52736000-52753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:52736200-52753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:52737200-52760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:52737600-52753600	Weak transcription	NH-A	brain
25	chr8:52738200-52753600	Weak transcription	A549	lung
26	chr8:52739800-52765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:52739800-52782600	Weak transcription	K562	blood
28	chr8:52740200-52753400	Weak transcription	HMEC	breast
29	chr8:52740600-52753600	Weak transcription	Stomach Mucosa	stomach
30	chr8:52741600-52753600	Weak transcription	NHLF	lung
31	chr8:52742000-52765400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:52742600-52763400	Weak transcription	Brain Substantia Nigra	brain
33	chr8:52743000-52757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:52743000-52771400	Weak transcription	HepG2	liver
35	chr8:52743200-52765400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:52743400-52758800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:52743400-52763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:52743400-52766200	Weak transcription	HSMMtube	muscle
39	chr8:52743400-52771400	Weak transcription	Esophagus	oesophagus
40	chr8:52743600-52757200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:52743600-52758800	Weak transcription	Spleen	Spleen
42	chr8:52743800-52756800	Weak transcription	Right Ventricle	heart
43	chr8:52743800-52757000	Weak transcription	Aorta	Aorta
44	chr8:52743800-52758600	Weak transcription	Left Ventricle	heart
45	chr8:52743800-52758800	Weak transcription	Lung	lung
46	chr8:52743800-52763000	Weak transcription	Fetal Kidney	kidney
47	chr8:52743800-52763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:52743800-52765200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:52744000-52753600	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:52744000-52758800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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