Variant report

Variant	rs16851419
Chromosome Location	chr3:141142501-141142502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:141142264-141142501	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141141110..141143981-chr3:141144722..141147419,3	K562	blood:
2	chr3:141080039..141082485-chr3:141142226..141143996,2	K562	blood:
3	chr3:141119769..141122618-chr3:141139415..141144215,5	MCF-7	breast:
4	chr3:141054751..141056991-chr3:141142273..141144878,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11919595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12054156	1.00[ASN][1000 genomes]
rs12633093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851423	0.86[AMR][1000 genomes]
rs721338	0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs73872715	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73872725	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141131600-141144400	Strong transcription	Fetal Intestine Large	intestine
2	chr3:141131600-141145200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:141131800-141144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
5	chr3:141132200-141144400	Strong transcription	Fetal Intestine Small	intestine
6	chr3:141132200-141144800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
8	chr3:141133800-141158400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:141133800-141158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:141134000-141146800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:141134000-141161600	Weak transcription	Fetal Brain Male	brain
12	chr3:141134200-141145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:141134200-141161600	Weak transcription	Primary T cells from cord blood	blood
14	chr3:141134600-141144400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:141134600-141144600	Weak transcription	Liver	Liver
16	chr3:141134600-141148000	Weak transcription	Brain Germinal Matrix	brain
17	chr3:141135200-141144600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:141135400-141144000	Weak transcription	Fetal Kidney	kidney
19	chr3:141135600-141160200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:141136000-141144600	Weak transcription	K562	blood
21	chr3:141136200-141144600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:141136200-141144800	Weak transcription	Colonic Mucosa	Colon
23	chr3:141136400-141144400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:141136400-141145000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:141137400-141144400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:141137400-141144800	Weak transcription	Stomach Mucosa	stomach
27	chr3:141137600-141144400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:141137600-141146400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:141137800-141144800	Weak transcription	HSMMtube	muscle
30	chr3:141138000-141144400	Weak transcription	Fetal Lung	lung
31	chr3:141138000-141152000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:141138200-141144600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:141138400-141144400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:141138400-141145200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:141138600-141144600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:141139000-141144200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:141139000-141145000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:141139200-141143800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:141139200-141144200	Weak transcription	Brain Anterior Caudate	brain
40	chr3:141139200-141144200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:141139200-141145000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:141139400-141143800	Weak transcription	Brain Substantia Nigra	brain
43	chr3:141139400-141143800	Weak transcription	Psoas Muscle	Psoas
44	chr3:141139400-141144200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:141139400-141144400	Weak transcription	Adipose Nuclei	Adipose
46	chr3:141139400-141145000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:141139600-141144000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:141140400-141142600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
49	chr3:141140600-141143200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr3:141140600-141143400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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