Variant report

Variant	rs4573264
Chromosome Location	chr8:52798385-52798386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52789836..52792146-chr8:52797472..52799368,2	K562	blood:
2	chr8:52796441..52798988-chr8:52800960..52803935,3	K562	blood:
3	chr8:52796166..52799538-chr8:52799577..52802890,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10113123	1.00[EUR][1000 genomes]
rs10504129	0.92[AFR][1000 genomes];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]
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	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]
rs73592217	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73592223	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73592239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73592248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592250	0.83[AFR][1000 genomes]
rs7816154	1.00[EUR][1000 genomes]
rs7831461	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832049	1.00[EUR][1000 genomes]
rs7834322	0.92[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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
2	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
3	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
5	chr8:52780800-52803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
7	chr8:52783000-52803200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:52783000-52803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:52783000-52803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:52784000-52806600	Weak transcription	Hela-S3	cervix
11	chr8:52784200-52806600	Weak transcription	A549	lung
12	chr8:52789200-52799600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:52795200-52799400	Weak transcription	Ovary	ovary
14	chr8:52795600-52798400	Enhancers	Brain Hippocampus Middle	brain
15	chr8:52795600-52800200	Enhancers	Primary T cells from cord blood	blood
16	chr8:52795800-52798800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:52796000-52799800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:52796200-52798400	Enhancers	Adipose Nuclei	Adipose
19	chr8:52796200-52798400	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:52796200-52798400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:52796200-52798600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:52796200-52798600	Enhancers	Brain Germinal Matrix	brain
23	chr8:52796200-52798800	Enhancers	Small Intestine	intestine
24	chr8:52796200-52800000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:52796200-52800200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:52796400-52798400	Enhancers	Brain Angular Gyrus	brain
27	chr8:52796400-52798400	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:52796400-52800000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:52796600-52798800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:52796600-52799400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr8:52796600-52799800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:52796600-52799800	Enhancers	Fetal Heart	heart
33	chr8:52796600-52800000	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:52796600-52800200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:52796800-52798800	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:52796800-52798800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:52796800-52798800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:52796800-52799000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:52796800-52799800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:52796800-52799800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:52796800-52800000	Enhancers	Fetal Thymus	thymus
42	chr8:52796800-52800000	Enhancers	Thymus	Thymus
43	chr8:52796800-52800200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:52797000-52798400	Enhancers	Primary B cells from cord blood	blood
45	chr8:52797000-52798600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr8:52797000-52799000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:52797000-52800000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:52797200-52798400	Enhancers	GM12878-XiMat	blood
49	chr8:52797200-52798600	Enhancers	HSMM	muscle
50	chr8:52797200-52798800	Enhancers	Fetal Brain Female	brain

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