Variant report

Variant	rs544448299
Chromosome Location	chr1:86079323-86079324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86073392..86075755-chr1:86077364..86079429,2	MCF-7	breast:
2	chr1:86041810..86044112-chr1:86078850..86081561,2	K562	blood:
3	chr1:86040063..86041996-chr1:86079149..86082023,2	K562	blood:
4	chr1:86045439..86048632-chr1:86076708..86079652,4	K562	blood:
5	chr1:86078662..86080625-chr1:86320837..86323478,2	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 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	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86073200-86082200	Weak transcription	Aorta	Aorta
3	chr1:86074200-86081200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:86076600-86079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:86076600-86079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:86076600-86079400	Enhancers	Fetal Lung	lung
7	chr1:86076600-86080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:86076800-86079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:86076800-86079400	Enhancers	HMEC	breast
10	chr1:86077000-86083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:86077600-86079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:86077600-86079600	Enhancers	HSMMtube	muscle
13	chr1:86077800-86079400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:86077800-86079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:86077800-86081800	Weak transcription	Right Atrium	heart
16	chr1:86078400-86079400	Flanking Active TSS	NHDF-Ad	bronchial
17	chr1:86078600-86079600	Enhancers	HSMM	muscle
18	chr1:86078600-86080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:86078800-86079400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:86078800-86079400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:86078800-86079400	Flanking Active TSS	Osteobl	bone
22	chr1:86078800-86081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:86078800-86081600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:86079000-86079400	Flanking Active TSS	Fetal Heart	heart
25	chr1:86079000-86079400	Enhancers	A549	lung
26	chr1:86079000-86081200	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:86079000-86081200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:86079000-86081800	Weak transcription	Ovary	ovary
29	chr1:86079000-86081800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:86079000-86082200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:86079200-86079400	Flanking Active TSS	NHLF	lung
32	chr1:86079200-86079600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:86079200-86079600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:86079200-86079600	Enhancers	NH-A	brain
35	chr1:86079200-86080600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:86079200-86081000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:86079200-86081000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:86079200-86081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:86079200-86081200	Weak transcription	Placenta	Placenta
40	chr1:86079200-86082400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:86079200-86085200	Weak transcription	Hela-S3	cervix
42	chr1:86079200-86086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:86079200-86087800	Weak transcription	Left Ventricle	heart
44	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea

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