Variant report

Variant	rs555572005
Chromosome Location	chr10:46148938-46148939
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	RUNX3	chr10:46148830-46149788	GM12878	blood:	n/a	n/a
2	MEF2A	chr10:46148853-46149358	GM12878	blood:	n/a	n/a
3	MTA3	chr10:46148912-46149782	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:46148698-46149782	Raji	blood:	n/a	n/a
5	RUNX3	chr10:46148672-46149785	GM12878	blood:	n/a	n/a
6	ATF2	chr10:46148813-46149349	GM12878	blood:	n/a	n/a
7	NFIC	chr10:46148724-46149794	GM12878	blood:	n/a	n/a
8	EP300	chr10:46148933-46149320	GM12878	blood:	n/a	n/a
9	POU2F2	chr10:46148914-46149384	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZFAND4	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1050880	chr10:46091441-46160597	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv540588	chr10:46091441-46160597	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv895113	chr10:46134013-46167847	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv540589	chr10:46136345-46153760	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3392795	chr10:46147995-46170942	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1045014	chr10:46148750-46814526	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv2754498	chr10:46148750-47136996	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:46098200-46153400	Weak transcription	HSMM	muscle
3	chr10:46104400-46151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:46108000-46155800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:46108400-46149400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:46108400-46167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:46108600-46149200	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:46108600-46155400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:46110200-46153800	Weak transcription	NH-A	brain
10	chr10:46110800-46156800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:46112200-46152400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:46120000-46157800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:46122200-46154600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:46122200-46157200	Weak transcription	Gastric	stomach
15	chr10:46122400-46149000	Weak transcription	Brain Substantia Nigra	brain
16	chr10:46122400-46156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:46133800-46157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:46137200-46167000	Weak transcription	Right Ventricle	heart
19	chr10:46137600-46149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:46137600-46156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:46137600-46167200	Weak transcription	Ovary	ovary
22	chr10:46138400-46156600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:46140600-46150200	Weak transcription	HepG2	liver
24	chr10:46142400-46158000	Weak transcription	A549	lung
25	chr10:46142800-46152200	Weak transcription	Thymus	Thymus
26	chr10:46142800-46155200	Weak transcription	Pancreas	Pancrea
27	chr10:46142800-46155600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:46142800-46156400	Weak transcription	Fetal Stomach	stomach
29	chr10:46142800-46156800	Weak transcription	Lung	lung
30	chr10:46142800-46167000	Weak transcription	Esophagus	oesophagus
31	chr10:46142800-46167000	Weak transcription	Psoas Muscle	Psoas
32	chr10:46142800-46167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:46142800-46167200	Weak transcription	Aorta	Aorta
34	chr10:46143000-46154400	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:46143000-46156200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr10:46143200-46153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:46143200-46154400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr10:46143200-46155800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:46143200-46167000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:46143200-46167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:46143200-46167400	Weak transcription	Left Ventricle	heart
42	chr10:46143400-46149400	Weak transcription	Brain Anterior Caudate	brain
43	chr10:46143400-46155400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:46143400-46167000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr10:46143400-46167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:46143600-46154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:46143600-46167200	Weak transcription	Fetal Lung	lung
48	chr10:46143800-46157400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:46144000-46150200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:46144000-46154400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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