Variant report

Variant	rs6873194
Chromosome Location	chr5:81011641-81011642
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	chr5:81011299..81014307-chr5:81021484..81024524,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16899102	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs58821505	0.88[AMR][1000 genomes]
rs60160270	0.88[AMR][1000 genomes]
rs6866695	0.88[AMR][1000 genomes]
rs6867759	0.82[AMR][1000 genomes]
rs73768110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7708809	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722121	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9688025	0.88[AMR][1000 genomes]

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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
4	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
7	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80999400-81013000	Weak transcription	Ovary	ovary
12	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
13	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
15	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
17	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
18	chr5:81003400-81013200	Weak transcription	HSMM	muscle
19	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
23	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
29	chr5:81006400-81011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
32	chr5:81007200-81012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:81007800-81011800	Weak transcription	Primary T cells from cord blood	blood
35	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:81008400-81014200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:81008800-81014200	Weak transcription	Right Atrium	heart
38	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:81009200-81013600	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:81010800-81011800	ZNF genes & repeats	GM12878-XiMat	blood
42	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
43	chr5:81011000-81012000	Enhancers	Psoas Muscle	Psoas
44	chr5:81011000-81014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:81011200-81013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:81011400-81011800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:81011400-81012000	Enhancers	NHLF	lung
48	chr5:81011400-81014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:81011400-81015400	Weak transcription	Spleen	Spleen
50	chr5:81011600-81011800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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