Variant report

Variant	rs181008194
Chromosome Location	chr10:52345578-52345579
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	JUN	chr10:52345182-52347030	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
2	ARID3A	chr10:52345577-52345762	K562	blood:	n/a	n/a
3	RFX5	chr10:52345455-52345613	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52341787..52346100-chr10:52382899..52385718,8	MCF-7	breast:
2	chr10:52345136..52347979-chr10:52349121..52350897,2	MCF-7	breast:
3	chr10:52343887..52348125-chr10:52383719..52386062,5	K562	blood:
4	chr10:52342227..52348125-chr10:52381237..52386507,8	K562	blood:

Variant related genes	Relation type
RMRPP4	TF binding region
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction
ENSG00000238523	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	nsv971909	chr10:52344351-52348873	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52336200-52346000	Weak transcription	Esophagus	oesophagus
3	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:52336400-52346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:52336400-52348600	Weak transcription	Lung	lung
6	chr10:52336600-52346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:52336600-52346000	Weak transcription	NHEK	skin
8	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:52337000-52348000	Weak transcription	Thymus	Thymus
10	chr10:52337800-52346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:52337800-52346400	Weak transcription	Spleen	Spleen
12	chr10:52337800-52347800	Weak transcription	Fetal Thymus	thymus
13	chr10:52337800-52352800	Weak transcription	Fetal Brain Male	brain
14	chr10:52338000-52345600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:52338000-52346000	Weak transcription	Ovary	ovary
16	chr10:52338000-52346000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:52338000-52346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:52338000-52346200	Weak transcription	HUVEC	blood vessel
19	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
20	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
21	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
22	chr10:52338200-52346200	Weak transcription	NHDF-Ad	bronchial
23	chr10:52338200-52346400	Weak transcription	Adipose Nuclei	Adipose
24	chr10:52338200-52346400	Weak transcription	Osteobl	bone
25	chr10:52338200-52347600	Weak transcription	Fetal Muscle Leg	muscle
26	chr10:52338200-52347800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:52338200-52348800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:52338200-52353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:52338200-52353800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:52338400-52346000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:52338400-52346200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr10:52338400-52348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:52338600-52347600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:52338600-52353400	Weak transcription	Brain Germinal Matrix	brain
35	chr10:52338600-52353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:52338800-52347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:52338800-52348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:52339600-52346000	Weak transcription	Placenta	Placenta
39	chr10:52340400-52346000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:52341000-52346000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:52341000-52346200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr10:52341000-52347600	Weak transcription	Fetal Lung	lung
44	chr10:52341000-52348000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:52341200-52346000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:52341200-52347400	Weak transcription	HepG2	liver
47	chr10:52341200-52347800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:52341200-52348800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:52341400-52347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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