Variant report

Variant	rs560419981
Chromosome Location	chr3:43328666-43328667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43328576..43330209-chr3:43363736..43365348,2	K562	blood:
2	chr3:43328082..43330424-chr3:43353703..43355564,2	K562	blood:
3	chr3:43327640..43330625-chr3:43731199..43733951,3	K562	blood:
4	chr3:43328259..43329793-chr3:43345734..43348023,2	K562	blood:
5	chr3:43328459..43331117-chr3:43356191..43358697,2	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000241939	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3420235	chr3:43326048-43330246	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3527908	chr3:43327298-43329521	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3527909	chr3:43327298-43329521	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv590153	chr3:43327873-43329913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv590154	chr3:43327873-43334020	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv590155	chr3:43327873-43334878	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv590157	chr3:43327924-43329913	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv590158	chr3:43327924-43334878	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv590159	chr3:43328010-43329913	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv590160	chr3:43328076-43334878	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43327200-43328800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr3:43327200-43328800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:43327200-43328800	Active TSS	Brain Germinal Matrix	brain
4	chr3:43327200-43328800	Active TSS	Brain Hippocampus Middle	brain
5	chr3:43327200-43329000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:43327200-43329000	Active TSS	Fetal Brain Female	brain
7	chr3:43327200-43329200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr3:43327200-43329200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:43327400-43328800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:43327400-43328800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:43327400-43328800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:43327400-43328800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:43327400-43328800	Active TSS	Fetal Lung	lung
14	chr3:43327400-43329000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:43327400-43329000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:43327400-43329200	Active TSS	Lung	lung
17	chr3:43327400-43329400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:43327400-43329800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:43327400-43330200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:43327400-43330600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:43327400-43332000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:43327600-43328800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:43327600-43328800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:43327600-43328800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:43327600-43328800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:43327600-43328800	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:43327600-43328800	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr3:43327600-43328800	Active TSS	Brain Angular Gyrus	brain
29	chr3:43327600-43328800	Active TSS	Brain Cingulate Gyrus	brain
30	chr3:43327600-43328800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr3:43327600-43328800	Active TSS	Fetal Kidney	kidney
32	chr3:43327600-43328800	Active TSS	HSMMtube	muscle
33	chr3:43327600-43328800	Active TSS	NH-A	brain
34	chr3:43327600-43328800	Active TSS	Osteobl	bone
35	chr3:43327600-43329000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr3:43327600-43329000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:43327600-43329000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr3:43327600-43329000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:43327600-43329000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:43327600-43329000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:43327600-43329000	Active TSS	Brain Anterior Caudate	brain
42	chr3:43327600-43329000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:43327600-43329000	Active TSS	Fetal Brain Male	brain
44	chr3:43327600-43329000	Active TSS	Fetal Stomach	stomach
45	chr3:43327600-43329000	Active TSS	A549	lung
46	chr3:43327600-43329000	Active TSS	Hela-S3	cervix
47	chr3:43327600-43329200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:43327600-43329200	Active TSS	Liver	Liver
49	chr3:43327600-43329200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:43327600-43329200	Active TSS	Gastric	stomach

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