Variant report

Variant	rs59830249
Chromosome Location	chr5:178032965-178032966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178030104..178033077-chr5:178039867..178042129,2	K562	blood:
2	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
3	chr5:178030327..178033259-chr5:178048893..178051726,2	MCF-7	breast:
4	chr5:178032038..178034320-chr5:178042432..178044449,2	K562	blood:

Variant related genes	Relation type
ENSG00000113240	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]
rs60727421	1.00[AMR][1000 genomes]
rs73330616	1.00[AMR][1000 genomes]
rs73340771	1.00[AMR][1000 genomes]
rs73351808	1.00[AMR][1000 genomes]
rs73351811	1.00[AFR][1000 genomes];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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178017800-178033400	Weak transcription	Esophagus	oesophagus
2	chr5:178017800-178033400	Weak transcription	Gastric	stomach
3	chr5:178017800-178033400	Weak transcription	Right Atrium	heart
4	chr5:178018200-178043200	Weak transcription	Aorta	Aorta
5	chr5:178019400-178036800	Weak transcription	Psoas Muscle	Psoas
6	chr5:178022400-178038600	Weak transcription	Small Intestine	intestine
7	chr5:178023200-178046000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:178024000-178050000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178024400-178046000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:178024600-178035800	Strong transcription	Primary B cells from cord blood	blood
11	chr5:178024600-178037000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:178026200-178050200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:178026400-178035200	Strong transcription	HMEC	breast
14	chr5:178026400-178048400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:178026400-178050000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:178026400-178050200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:178026400-178050200	Strong transcription	Fetal Lung	lung
18	chr5:178026400-178050400	Strong transcription	Placenta	Placenta
19	chr5:178026400-178050400	Strong transcription	Fetal Thymus	thymus
20	chr5:178026400-178050400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:178026400-178050600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:178026400-178050800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:178026600-178035200	Weak transcription	K562	blood
24	chr5:178026800-178035800	Strong transcription	Primary T cells from cord blood	blood
25	chr5:178026800-178036200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:178026800-178050400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:178027000-178033200	Strong transcription	HUVEC	blood vessel
28	chr5:178027000-178047200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:178027000-178049800	Strong transcription	Dnd41	blood
30	chr5:178027000-178050600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:178027400-178036200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:178027400-178036400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:178027400-178049400	Strong transcription	GM12878-XiMat	blood
34	chr5:178027600-178035800	Strong transcription	Brain Anterior Caudate	brain
35	chr5:178027600-178036000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr5:178027600-178050000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:178027600-178050400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:178028000-178036200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:178028000-178036200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:178028000-178036200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:178028000-178050400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:178028000-178050400	Strong transcription	NH-A	brain
43	chr5:178028200-178046000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:178028200-178049600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:178028200-178050200	Strong transcription	Fetal Intestine Large	intestine
46	chr5:178028400-178033800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:178028400-178046800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:178028400-178049800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:178028400-178050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:178028400-178050400	Strong transcription	Duodenum Mucosa	Duodenum

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