Variant report

Variant	rs4596531
Chromosome Location	chr6:2400921-2400922
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	chr6:2396597..2398652-chr6:2400293..2401857,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11965611	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968173	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524370	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12529088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191094	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198172	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13200914	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13204171	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13214285	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220248	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536894	0.86[EUR][1000 genomes]
rs17608626	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609498	0.85[EUR][1000 genomes]
rs28360628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34172338	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34610626	0.86[EUR][1000 genomes]
rs34854900	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34901328	0.86[EUR][1000 genomes]
rs34932214	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34996746	0.82[EUR][1000 genomes]
rs35182831	0.85[EUR][1000 genomes]
rs35590232	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35892674	0.86[EUR][1000 genomes]
rs35918040	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3734504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734505	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734507	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823107	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4959175	0.82[EUR][1000 genomes]
rs4959176	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4959177	0.88[AMR][1000 genomes]
rs4959180	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4959181	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959182	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959654	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959658	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959661	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959662	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959663	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959665	0.83[AMR][1000 genomes]
rs55939357	0.81[EUR][1000 genomes]
rs56343276	0.86[EUR][1000 genomes]
rs59493792	0.86[EUR][1000 genomes]
rs62391186	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902556	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6908555	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911665	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71552124	0.85[EUR][1000 genomes]
rs7738954	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755646	0.85[AMR][1000 genomes]
rs7773388	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501836	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9501838	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503185	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503186	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503187	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503188	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503189	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791368	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
2	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1016878	chr6:2375784-2680476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv498004	chr6:2380300-3313587	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2392400-2414400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:2395400-2403800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2396800-2415400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:2397000-2402800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:2397000-2409400	Weak transcription	HepG2	liver
6	chr6:2397200-2410200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:2397400-2402400	Weak transcription	Psoas Muscle	Psoas
8	chr6:2397400-2403000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:2397400-2404200	Weak transcription	Fetal Kidney	kidney
10	chr6:2397800-2406800	Weak transcription	Fetal Heart	heart
11	chr6:2398000-2401000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:2398000-2401200	Weak transcription	Colonic Mucosa	Colon
13	chr6:2398000-2403200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:2398000-2412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2398200-2401000	Strong transcription	Ovary	ovary
16	chr6:2398200-2405400	Weak transcription	Right Ventricle	heart
17	chr6:2398400-2401800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:2398600-2403800	Weak transcription	Gastric	stomach
19	chr6:2398600-2405400	Weak transcription	Spleen	Spleen
20	chr6:2398800-2402200	Strong transcription	Left Ventricle	heart
21	chr6:2399000-2401200	Strong transcription	Fetal Intestine Large	intestine
22	chr6:2399400-2402400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:2399600-2401200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:2399800-2401200	Weak transcription	Fetal Lung	lung
25	chr6:2399800-2404000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:2399800-2404200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:2399800-2409000	Weak transcription	Thymus	Thymus
28	chr6:2399800-2414000	Weak transcription	Fetal Stomach	stomach
29	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:2400600-2401400	ZNF genes & repeats	Aorta	Aorta
31	chr6:2400600-2401400	ZNF genes & repeats	Lung	lung
32	chr6:2400600-2401600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:2400600-2401600	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr6:2400600-2402000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:2400800-2401200	Strong transcription	Pancreas	Pancrea
36	chr6:2400800-2401400	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr6:2400800-2401400	ZNF genes & repeats	Liver	Liver
38	chr6:2400800-2401400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr6:2400800-2402000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr6:2400800-2402200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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