Variant report

Variant	rs10305858
Chromosome Location	chr4:148404016-148404017
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	chr4:148403713-148404222	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148398530..148400390-chr4:148402721..148404279,2	MCF-7	breast:
2	chr4:148400285..148404582-chr4:148404756..148408817,4	K562	blood:

Variant related genes	Relation type
EDNRA	TF binding region
ENSG00000151617	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10305852	1.00[CHB][hapmap]
rs10305853	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148401400-148404400	Active TSS	Right Ventricle	heart
2	chr4:148401400-148404600	Active TSS	Fetal Kidney	kidney
3	chr4:148401800-148404200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:148401800-148404200	Active TSS	Left Ventricle	heart
5	chr4:148401800-148404400	Active TSS	Ovary	ovary
6	chr4:148401800-148404600	Active TSS	Right Atrium	heart
7	chr4:148402000-148404600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:148402400-148404200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:148402800-148404200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
10	chr4:148402800-148404400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:148403000-148404200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:148403000-148404200	Active TSS	Fetal Stomach	stomach
13	chr4:148403000-148404400	Flanking Active TSS	NH-A	brain
14	chr4:148403000-148405600	Weak transcription	Spleen	Spleen
15	chr4:148403200-148404200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148403200-148404200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:148403200-148404200	Active TSS	Gastric	stomach
18	chr4:148403200-148404200	Enhancers	Osteobl	bone
19	chr4:148403200-148404400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:148403200-148404400	Active TSS	Fetal Muscle Trunk	muscle
21	chr4:148403400-148404200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr4:148403400-148404200	Active TSS	Adipose Nuclei	Adipose
23	chr4:148403400-148404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:148403400-148404400	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr4:148403600-148404200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:148403600-148404200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:148403800-148404200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr4:148403800-148404200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:148403800-148404200	Enhancers	NHEK	skin
30	chr4:148403800-148404400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:148403800-148404400	Active TSS	Psoas Muscle	Psoas
32	chr4:148403800-148417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:148404000-148404200	Active TSS	Aorta	Aorta
34	chr4:148404000-148404200	Enhancers	Lung	lung
35	chr4:148404000-148404200	Bivalent Enhancer	Small Intestine	intestine
36	chr4:148404000-148404200	Enhancers	HMEC	breast
37	chr4:148404000-148404400	Flanking Active TSS	Fetal Heart	heart
38	chr4:148404000-148404400	Active TSS	Fetal Lung	lung
39	chr4:148404000-148404400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:148404000-148404400	Enhancers	NHDF-Ad	bronchial
41	chr4:148404000-148404600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:148404000-148404600	Active TSS	Fetal Muscle Leg	muscle
43	chr4:148404000-148404600	Active TSS	Stomach Smooth Muscle	stomach
44	chr4:148404000-148404600	Enhancers	NHLF	lung

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