Variant report

Variant	rs568465043
Chromosome Location	chr10:43762558-43762559
allele	A/G
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	chr10:43762139-43762720	H1-neurons	neurons:	n/a	n/a
2	EGR1	chr10:43762247-43762649	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:43762358-43762668	A549	lung:	n/a	n/a
4	EGR1	chr10:43762331-43762655	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr10:43762469-43762645	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:43762140-43762739	H1-neurons	neurons:	n/a	n/a
7	GABPA	chr10:43762197-43762630	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
2	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:
3	chr10:43761779..43764546-chr10:43932522..43934779,2	K562	blood:

Variant related genes	Relation type
RASGEF1A	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000169826	Chromatin interaction
ENSG00000273008	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv825351	chr10:43714249-43788481	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv895086	chr10:43731521-43767816	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3325362	chr10:43761321-43763744	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43761000-43762800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr10:43761200-43762800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:43761200-43762800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:43761400-43762600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:43761400-43762800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:43761400-43762800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr10:43761400-43763400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:43761600-43762800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:43761600-43762800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:43761600-43762800	Active TSS	Right Atrium	heart
11	chr10:43761600-43763000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:43761800-43762600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:43761800-43762600	Active TSS	Left Ventricle	heart
14	chr10:43761800-43762600	Active TSS	Psoas Muscle	Psoas
15	chr10:43761800-43762800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr10:43761800-43762800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:43761800-43762800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr10:43761800-43762800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr10:43761800-43762800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:43761800-43762800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:43761800-43762800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr10:43761800-43762800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:43761800-43762800	Bivalent/Poised TSS	Ovary	ovary
24	chr10:43761800-43762800	Bivalent/Poised TSS	HepG2	liver
25	chr10:43761800-43763200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr10:43761800-43763200	Active TSS	A549	lung
27	chr10:43762000-43762600	Bivalent/Poised TSS	Thymus	Thymus
28	chr10:43762000-43762800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr10:43762000-43762800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr10:43762000-43762800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:43762000-43762800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:43762000-43762800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:43762000-43762800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:43762000-43762800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:43762000-43762800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:43762000-43762800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:43762000-43763000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:43762000-43763000	Active TSS	Stomach Smooth Muscle	stomach
39	chr10:43762000-43763200	Enhancers	Lung	lung
40	chr10:43762000-43763400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:43762200-43762600	Active TSS	Aorta	Aorta
42	chr10:43762200-43762600	Bivalent/Poised TSS	HMEC	breast
43	chr10:43762200-43762600	Bivalent/Poised TSS	HSMM	muscle
44	chr10:43762200-43762800	Active TSS	Right Ventricle	heart
45	chr10:43762400-43762600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:43762400-43762600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr10:43762400-43762600	Flanking Active TSS	Pancreas	Pancrea
48	chr10:43762400-43762800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:43762400-43762800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:43762400-43762800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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