Variant report

Variant	rs905713
Chromosome Location	chr6:80314116-80314117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80313208..80315896-chr6:80339700..80342572,2	K562	blood:
2	chr6:80313976..80315721-chr6:80316526..80319476,2	MCF-7	breast:
3	chr6:80313081..80315712-chr6:80421227..80423737,2	K562	blood:
4	chr6:80313064..80315190-chr6:80363540..80365628,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-4	chr6:80313635-80314831	l_3210_chr6:80303886-80314831_testes

Variant related genes	Relation type
ENSG00000198478	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1385535	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1394288	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1809972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1827627	1.00[AMR][1000 genomes]
rs2134855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492383	1.00[AMR][1000 genomes]
rs2492384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2575199	1.00[YRI][hapmap]
rs2655661	1.00[AMR][1000 genomes]
rs2655682	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2655695	1.00[YRI][hapmap]
rs2803187	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2803198	1.00[YRI][hapmap]
rs2812685	1.00[AMR][1000 genomes]
rs2812693	1.00[AMR][1000 genomes]
rs2812694	1.00[AMR][1000 genomes]
rs2814377	1.00[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80298600-80324200	Weak transcription	Right Ventricle	heart
2	chr6:80307200-80314600	Weak transcription	Small Intestine	intestine
3	chr6:80310000-80314200	Weak transcription	Fetal Heart	heart
4	chr6:80310400-80314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:80310400-80315800	Weak transcription	Gastric	stomach
6	chr6:80310400-80315800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:80310400-80317800	Weak transcription	Colonic Mucosa	Colon
8	chr6:80310600-80319200	Weak transcription	Psoas Muscle	Psoas
9	chr6:80310800-80314400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:80311000-80315800	Weak transcription	Hela-S3	cervix
11	chr6:80311000-80324400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:80311200-80314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:80311200-80314200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:80311200-80315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:80311200-80317200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:80311200-80324400	Weak transcription	Pancreas	Pancrea
17	chr6:80311400-80315800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:80312200-80314800	Weak transcription	Stomach Mucosa	stomach
19	chr6:80312200-80319200	Enhancers	HSMM	muscle
20	chr6:80312600-80314600	Enhancers	HSMMtube	muscle
21	chr6:80312600-80315400	Enhancers	NH-A	brain
22	chr6:80312600-80316600	Weak transcription	Fetal Kidney	kidney
23	chr6:80312800-80316200	Weak transcription	Brain Angular Gyrus	brain
24	chr6:80313000-80316800	Weak transcription	Brain Anterior Caudate	brain
25	chr6:80313200-80314800	Enhancers	A549	lung
26	chr6:80313400-80314400	Weak transcription	Fetal Brain Female	brain
27	chr6:80313400-80315800	Weak transcription	Aorta	Aorta
28	chr6:80313400-80317800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:80313400-80321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:80313600-80318400	Enhancers	HepG2	liver
31	chr6:80313600-80321600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:80313800-80315000	Enhancers	Fetal Intestine Large	intestine
33	chr6:80314000-80314800	Enhancers	HMEC	breast
34	chr6:80314000-80315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:80314000-80315000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr6:80314000-80315000	Enhancers	Osteobl	bone
37	chr6:80314000-80315200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:80314000-80315200	Enhancers	Fetal Intestine Small	intestine
39	chr6:80314000-80315200	Flanking Active TSS	K562	blood

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