Variant report

Variant	rs73351811
Chromosome Location	chr5:178046066-178046067
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	chr5:178045999-178046955	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:

Variant related genes	Relation type
CLK4	TF binding region
ENSG00000197451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57297200	1.00[AMR][1000 genomes]
rs58865807	1.00[AMR][1000 genomes]
rs59830249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727421	1.00[AMR][1000 genomes]
rs73330616	1.00[AMR][1000 genomes]
rs73340771	1.00[AMR][1000 genomes]
rs73351808	1.00[AMR][1000 genomes]
rs7734633	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178024000-178050000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:178026200-178050200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:178026400-178048400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr5:178026400-178050000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:178026400-178050200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:178026400-178050200	Strong transcription	Fetal Lung	lung
7	chr5:178026400-178050400	Strong transcription	Placenta	Placenta
8	chr5:178026400-178050400	Strong transcription	Fetal Thymus	thymus
9	chr5:178026400-178050400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:178026400-178050600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:178026400-178050800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:178026800-178050400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:178027000-178047200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:178027000-178049800	Strong transcription	Dnd41	blood
15	chr5:178027000-178050600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:178027400-178049400	Strong transcription	GM12878-XiMat	blood
17	chr5:178027600-178050000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr5:178027600-178050400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:178028000-178050400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:178028000-178050400	Strong transcription	NH-A	brain
21	chr5:178028200-178049600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:178028200-178050200	Strong transcription	Fetal Intestine Large	intestine
23	chr5:178028400-178046800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:178028400-178049800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:178028400-178050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:178028400-178050400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:178028600-178046200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:178028600-178046200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:178028800-178050400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:178029000-178047200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:178030200-178049800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:178030400-178050400	Strong transcription	HSMM	muscle
33	chr5:178030600-178050400	Strong transcription	Osteobl	bone
34	chr5:178031800-178046200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:178031800-178046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:178031800-178052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:178032800-178046200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:178033000-178050600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:178033800-178046600	Strong transcription	Adipose Nuclei	Adipose
40	chr5:178034400-178047200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:178034400-178050200	Strong transcription	Liver	Liver
42	chr5:178035000-178050400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:178035000-178050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:178035800-178052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:178036000-178050200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:178036200-178046800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:178036400-178047400	Strong transcription	Lung	lung
48	chr5:178036400-178049600	Strong transcription	Thymus	Thymus
49	chr5:178036400-178050200	Strong transcription	HMEC	breast
50	chr5:178037000-178048000	Strong transcription	Fetal Muscle Leg	muscle

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