Variant report

Variant	rs191676119
Chromosome Location	chr1:225839808-225839809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225839775..225842863-chr1:225886341..225888955,3	MCF-7	breast:
2	chr1:225837427..225840377-chr1:226110786..226113665,3	MCF-7	breast:
3	chr1:225766054..225768167-chr1:225839556..225842131,2	MCF-7	breast:
4	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
5	chr1:225742063..225742688-chr1:225839412..225840063,2	MCF-7	breast:
6	chr1:225839340..225843768-chr1:225964006..225968066,9	MCF-7	breast:
7	chr1:225839693..225840682-chr19:13049150..13050042,2	Hela-S3	cervix:
8	chr1:225837738..225841787-chr1:225965241..225967265,3	MCF-7	breast:
9	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
10	chr1:225811629..225814682-chr1:225837317..225840214,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000227496	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000143742	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3435512	chr1:225838929-225842227	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv3329174	chr1:225839754-225842702	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225836200-225840400	Active TSS	Right Atrium	heart
2	chr1:225836200-225842000	Active TSS	Aorta	Aorta
3	chr1:225836600-225841400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:225836600-225842200	Active TSS	Right Ventricle	heart
5	chr1:225836600-225842200	Active TSS	Stomach Smooth Muscle	stomach
6	chr1:225836800-225842200	Active TSS	NHLF	lung
7	chr1:225837000-225842000	Active TSS	Ovary	ovary
8	chr1:225837000-225842800	Active TSS	Psoas Muscle	Psoas
9	chr1:225837200-225841800	Active TSS	Osteobl	bone
10	chr1:225837200-225842800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr1:225837400-225842200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:225837600-225841600	Active TSS	Fetal Muscle Leg	muscle
13	chr1:225837600-225841800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:225837600-225842000	Active TSS	Fetal Lung	lung
15	chr1:225837600-225842000	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:225837600-225842400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:225838000-225841400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:225838000-225841800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:225838000-225841800	Active TSS	Colon Smooth Muscle	Colon
20	chr1:225838000-225842000	Active TSS	Fetal Stomach	stomach
21	chr1:225838000-225842200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:225838000-225842400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:225838000-225842400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:225838000-225842800	Active TSS	A549	lung
25	chr1:225838200-225841600	Active TSS	Fetal Brain Female	brain
26	chr1:225838200-225841800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:225838200-225841800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:225838200-225842000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:225838200-225842000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:225838200-225842000	Active TSS	NH-A	brain
31	chr1:225838200-225842200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:225838200-225842200	Active TSS	HSMM	muscle
33	chr1:225838200-225842200	Active TSS	HSMMtube	muscle
34	chr1:225838200-225842400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:225838200-225842400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:225838200-225842400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:225838200-225842800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:225838400-225842000	Active TSS	NHDF-Ad	bronchial
39	chr1:225838400-225842200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:225838400-225842200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:225838600-225842000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:225838600-225842000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:225838600-225842000	Active TSS	Fetal Kidney	kidney
44	chr1:225838600-225842000	Active TSS	HMEC	breast
45	chr1:225838600-225842200	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:225838800-225840000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:225838800-225840200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:225838800-225840400	Active TSS	Fetal Heart	heart
49	chr1:225838800-225841400	Active TSS	Fetal Intestine Small	intestine
50	chr1:225838800-225841600	Active TSS	Duodenum Mucosa	Duodenum

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