Variant report

Variant	rs10047246
Chromosome Location	chr1:92649915-92649916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92640592..92643432-chr1:92648038..92650855,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11164224	1.00[YRI][hapmap]

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	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92609800-92651200	Weak transcription	Fetal Kidney	kidney
2	chr1:92625600-92651000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:92626200-92652000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:92626600-92650800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:92626600-92657400	Weak transcription	Right Ventricle	heart
6	chr1:92626800-92650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:92626800-92651400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:92628200-92651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:92635200-92650400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:92636200-92651000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:92636800-92652400	Weak transcription	Fetal Brain Female	brain
12	chr1:92640200-92650200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:92642400-92662600	Weak transcription	NHDF-Ad	bronchial
14	chr1:92645600-92650400	Weak transcription	Thymus	Thymus
15	chr1:92645800-92650200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:92646400-92652000	Weak transcription	Psoas Muscle	Psoas
17	chr1:92646600-92651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:92646600-92652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:92646800-92651000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:92646800-92652000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:92647000-92651400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:92647200-92652000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:92647200-92653600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:92647200-92655800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:92647400-92651400	Weak transcription	Liver	Liver
26	chr1:92647400-92651400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:92647400-92652000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:92647400-92652600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:92647600-92651000	Weak transcription	Fetal Brain Male	brain
30	chr1:92647600-92652400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:92648000-92651400	Weak transcription	Fetal Lung	lung
32	chr1:92648000-92652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:92648000-92654000	Weak transcription	Primary T cells from cord blood	blood
34	chr1:92648200-92650200	Weak transcription	NHEK	skin
35	chr1:92648200-92651600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:92649400-92650200	Strong transcription	Ovary	ovary
37	chr1:92649400-92650800	Strong transcription	Brain Anterior Caudate	brain
38	chr1:92649400-92651000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:92649600-92650000	Weak transcription	HSMMtube	muscle
40	chr1:92649600-92650200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:92649600-92651000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:92649600-92651200	Enhancers	NH-A	brain
43	chr1:92649600-92651400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:92649600-92651800	Enhancers	HMEC	breast
45	chr1:92649600-92652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:92649600-92652200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:92649600-92652200	Enhancers	HSMM	muscle
48	chr1:92649600-92652200	Enhancers	Osteobl	bone
49	chr1:92649800-92650800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:92649800-92650800	Enhancers	Hela-S3	cervix

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