Variant report

Variant	rs72622564
Chromosome Location	chr3:178785834-178785835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178763837..178765875-chr3:178785002..178787931,2	K562	blood:
2	chr3:178784601..178786861-chr3:178787060..178790095,4	MCF-7	breast:
3	chr3:178732951..178734901-chr3:178785761..178787497,2	K562	blood:
4	chr3:178778004..178779935-chr3:178784372..178786776,2	MCF-7	breast:
5	chr3:178785014..178787957-chr3:178798169..178800614,2	K562	blood:

Variant related genes	Relation type
ENSG00000172667	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34891097	0.91[ASN][1000 genomes]
rs56248770	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611926	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178755600-178787800	Weak transcription	Aorta	Aorta
2	chr3:178756800-178788400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:178756800-178788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:178764200-178787000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:178764800-178787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:178764800-178789000	Weak transcription	Lung	lung
7	chr3:178765000-178786800	Weak transcription	Dnd41	blood
8	chr3:178765200-178789000	Weak transcription	Spleen	Spleen
9	chr3:178768400-178788800	Weak transcription	Small Intestine	intestine
10	chr3:178768600-178788800	Weak transcription	Placenta	Placenta
11	chr3:178771000-178788400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:178772000-178786800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:178772600-178788800	Weak transcription	Esophagus	oesophagus
14	chr3:178773600-178788600	Weak transcription	Fetal Stomach	stomach
15	chr3:178775000-178786000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:178777800-178788400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:178778200-178788600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:178779200-178787800	Weak transcription	Fetal Brain Male	brain
19	chr3:178779800-178787200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:178780000-178786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:178780200-178788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:178780400-178787600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:178780800-178786800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:178781000-178786600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:178781000-178786800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:178781000-178787200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:178781400-178786000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:178781600-178786000	Strong transcription	Fetal Thymus	thymus
29	chr3:178781800-178788400	Weak transcription	Right Atrium	heart
30	chr3:178782400-178788400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:178782600-178786000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:178782600-178786600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:178782600-178787800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:178782600-178788800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:178782600-178788800	Weak transcription	Psoas Muscle	Psoas
36	chr3:178783400-178788400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:178783400-178788600	Weak transcription	Right Ventricle	heart
38	chr3:178783600-178788400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:178783800-178788400	Weak transcription	Fetal Lung	lung
40	chr3:178784000-178786000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:178784000-178788400	Weak transcription	Hela-S3	cervix
42	chr3:178784200-178787200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:178784400-178786000	Strong transcription	NHEK	skin
44	chr3:178784400-178786600	Genic enhancers	HSMMtube	muscle
45	chr3:178784400-178787400	Weak transcription	A549	lung
46	chr3:178784400-178788000	Weak transcription	Fetal Kidney	kidney
47	chr3:178784400-178788400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:178784600-178788000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:178784600-178788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:178784800-178786000	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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