Variant report

Variant	rs1923185
Chromosome Location	chr6:24780892-24780893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24711892..24724164-chr6:24769415..24786834,81	K562	blood:
2	chr6:24699907..24702798-chr6:24778653..24782809,3	K562	blood:
3	chr6:24707645..24711659-chr6:24779375..24784848,6	K562	blood:
4	chr6:24715365..24725462-chr6:24770390..24783002,86	K562	blood:
5	chr6:24704323..24706405-chr6:24780403..24782969,2	K562	blood:
6	chr6:24720478..24722311-chr6:24779195..24782638,3	MCF-7	breast:
7	chr6:24778637..24781525-chr6:24789510..24791363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction
ENSG00000272345	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2180930	0.84[AMR][1000 genomes]
rs61550645	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358796	0.95[GIH][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs9358798	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9379688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv5227	chr6:24774149-24824012	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv508396	chr6:24779648-24846309	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24776200-24782000	Weak transcription	Fetal Brain Male	brain
2	chr6:24776200-24787000	Weak transcription	Aorta	Aorta
3	chr6:24776400-24803200	Weak transcription	HSMMtube	muscle
4	chr6:24776400-24807400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:24776600-24786800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:24776800-24788000	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:24776800-24788400	Weak transcription	Esophagus	oesophagus
8	chr6:24776800-24790600	Weak transcription	Right Ventricle	heart
9	chr6:24776800-24807600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:24777000-24781000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:24777000-24781000	Weak transcription	Thymus	Thymus
12	chr6:24777000-24781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:24777000-24781600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:24777000-24781600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:24777000-24781800	Weak transcription	Placenta	Placenta
16	chr6:24777000-24782000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:24777000-24782000	Weak transcription	Lung	lung
18	chr6:24777000-24782200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:24777000-24784400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:24777000-24786000	Weak transcription	Brain Substantia Nigra	brain
21	chr6:24777000-24786000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:24777000-24786400	Weak transcription	Ovary	ovary
23	chr6:24777000-24787000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:24777000-24787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:24777000-24788400	Weak transcription	Colonic Mucosa	Colon
26	chr6:24777000-24788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:24777000-24789000	Weak transcription	Gastric	stomach
28	chr6:24777000-24790800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:24777000-24791000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:24777000-24791000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:24777000-24797000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:24777000-24801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:24777000-24802400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:24777000-24805000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:24777000-24806200	Weak transcription	Spleen	Spleen
36	chr6:24777000-24808000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:24777000-24809400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:24777000-24811600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
41	chr6:24777200-24781000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:24777200-24783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:24777200-24783000	Weak transcription	Adipose Nuclei	Adipose
44	chr6:24777200-24784400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:24777200-24784600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:24777200-24787400	Weak transcription	Fetal Brain Female	brain
47	chr6:24777200-24790600	Weak transcription	Fetal Kidney	kidney
48	chr6:24777200-24791000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:24777200-24802400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:24777200-24802400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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