Variant report

Variant	rs2328375
Chromosome Location	chr6:143101332-143101333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143096514..143098025-chr6:143100418..143102424,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3888723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6570528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586535	1.00[AMR][1000 genomes]
rs9484670	1.00[AMR][1000 genomes]
rs9496460	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496461	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496466	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143081800-143105600	Weak transcription	Small Intestine	intestine
2	chr6:143091400-143102800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:143092800-143102600	Weak transcription	Psoas Muscle	Psoas
4	chr6:143093000-143101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:143094200-143104600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:143094800-143109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:143095600-143102400	Weak transcription	Aorta	Aorta
8	chr6:143095600-143102600	Weak transcription	Brain Germinal Matrix	brain
9	chr6:143095800-143101400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:143095800-143102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:143095800-143103400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:143095800-143117600	Weak transcription	Fetal Lung	lung
13	chr6:143095800-143122200	Weak transcription	NHEK	skin
14	chr6:143096000-143101400	Weak transcription	Right Ventricle	heart
15	chr6:143096000-143102400	Weak transcription	Primary B cells from cord blood	blood
16	chr6:143096000-143102400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:143096000-143102600	Weak transcription	Brain Anterior Caudate	brain
18	chr6:143096000-143102600	Weak transcription	Placenta	Placenta
19	chr6:143096000-143102600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:143096000-143102600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:143096000-143102600	Weak transcription	NHDF-Ad	bronchial
22	chr6:143096000-143102800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:143096000-143102800	Weak transcription	Fetal Brain Female	brain
24	chr6:143096000-143102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:143096000-143103000	Weak transcription	Ovary	ovary
26	chr6:143096000-143103400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:143096000-143104400	Weak transcription	Fetal Stomach	stomach
28	chr6:143096000-143104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:143096000-143104800	Weak transcription	Liver	Liver
30	chr6:143096000-143105000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:143096000-143105600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:143096000-143107200	Weak transcription	Brain Substantia Nigra	brain
33	chr6:143096000-143108000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:143096000-143108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:143096000-143111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:143096000-143117800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
38	chr6:143096200-143101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:143096200-143101400	Weak transcription	Osteobl	bone
40	chr6:143096200-143101600	Weak transcription	Adipose Nuclei	Adipose
41	chr6:143096200-143101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:143096200-143102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:143096200-143102400	Weak transcription	NH-A	brain
44	chr6:143096200-143102600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:143096200-143102600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:143096200-143102600	Weak transcription	Fetal Thymus	thymus
47	chr6:143096200-143102800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:143096200-143104000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:143096200-143104600	Weak transcription	Primary T cells from cord blood	blood
50	chr6:143096200-143104800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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