Variant report

Variant	rs343856
Chromosome Location	chr4:86647657-86647658
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10012090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10516755	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11724267	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11736641	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11937419	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102580	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105921	0.80[AMR][1000 genomes]
rs13111293	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13111662	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112030	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13113783	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13127274	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137008	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13150566	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1482093	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482094	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010755	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010812	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010816	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010847	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062097	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062098	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198328	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601855	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2601860	1.00[ASN][1000 genomes]
rs2601861	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624021	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490560	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2869377	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869379	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869380	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869384	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs343849	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34422670	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34949750	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41527748	1.00[ASN][1000 genomes]
rs4302455	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4507354	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813799	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658797	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660252	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7660702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692808	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994285	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86644000-86650200	Enhancers	NHDF-Ad	bronchial
2	chr4:86644800-86647800	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:86645000-86647800	Enhancers	Brain Anterior Caudate	brain
4	chr4:86645000-86648200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:86645000-86650200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86645800-86648000	Enhancers	Liver	Liver
7	chr4:86646000-86647800	Enhancers	HSMM	muscle
8	chr4:86646000-86647800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:86646000-86648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:86646000-86649000	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:86646200-86647800	Enhancers	Brain Hippocampus Middle	brain
12	chr4:86646200-86648200	Enhancers	Adipose Nuclei	Adipose
13	chr4:86646400-86647800	Enhancers	Colon Smooth Muscle	Colon
14	chr4:86646400-86648000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:86646400-86648200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:86646400-86648400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:86646400-86649000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:86646600-86647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:86646600-86647800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:86646600-86647800	Enhancers	Gastric	stomach
21	chr4:86646600-86647800	Enhancers	Left Ventricle	heart
22	chr4:86646600-86647800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:86646600-86647800	Enhancers	Small Intestine	intestine
24	chr4:86646600-86647800	Enhancers	Spleen	Spleen
25	chr4:86646600-86648000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr4:86646600-86648000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:86646600-86648400	Enhancers	Pancreas	Pancrea
28	chr4:86646600-86648400	Enhancers	Right Atrium	heart
29	chr4:86646800-86647800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr4:86646800-86647800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:86646800-86647800	Enhancers	Placenta	Placenta
32	chr4:86646800-86648000	Flanking Active TSS	K562	blood
33	chr4:86646800-86649400	Weak transcription	Fetal Kidney	kidney
34	chr4:86647000-86647800	Enhancers	Fetal Muscle Trunk	muscle
35	chr4:86647000-86647800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:86647000-86649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:86647000-86653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
39	chr4:86647200-86647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:86647200-86653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:86647400-86649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr4:86647400-86652400	Weak transcription	Stomach Mucosa	stomach
44	chr4:86647400-86653200	Weak transcription	Fetal Heart	heart
45	chr4:86647600-86647800	Enhancers	Aorta	Aorta
46	chr4:86647600-86647800	Enhancers	Colonic Mucosa	Colon
47	chr4:86647600-86648000	Enhancers	GM12878-XiMat	blood
48	chr4:86647600-86649200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:86647600-86649800	Weak transcription	HSMMtube	muscle
50	chr4:86647600-86652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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