Variant report

Variant	rs532877332
Chromosome Location	chr1:85513119-85513120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	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
6	esv3448123	chr1:85513114-85515312	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85508400-85513200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85512400-85515800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:85512600-85513400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr1:85512800-85513200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr1:85512800-85513200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr1:85512800-85513200	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr1:85512800-85513400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:85512800-85513600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr1:85512800-85513600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr1:85512800-85513600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr1:85512800-85513600	Bivalent Enhancer	Fetal Lung	lung
12	chr1:85512800-85513600	Active TSS	Right Atrium	heart
13	chr1:85512800-85513600	Flanking Active TSS	HMEC	breast
14	chr1:85512800-85514600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr1:85512800-85514800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:85513000-85513200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:85513000-85513200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:85513000-85513200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:85513000-85513200	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr1:85513000-85513200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr1:85513000-85513200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:85513000-85513200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:85513000-85513200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:85513000-85513200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:85513000-85513200	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr1:85513000-85513200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:85513000-85513200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:85513000-85513200	Bivalent Enhancer	Placenta	Placenta
31	chr1:85513000-85513200	Flanking Active TSS	Gastric	stomach
32	chr1:85513000-85513200	Flanking Active TSS	Pancreas	Pancrea
33	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
34	chr1:85513000-85513200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr1:85513000-85513200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr1:85513000-85513200	Enhancers	Spleen	Spleen
37	chr1:85513000-85513200	Enhancers	GM12878-XiMat	blood
38	chr1:85513000-85513200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr1:85513000-85513200	Bivalent/Poised TSS	NHEK	skin
40	chr1:85513000-85513400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr1:85513000-85513400	Bivalent Enhancer	Brain Anterior Caudate	brain
42	chr1:85513000-85513400	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr1:85513000-85513400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr1:85513000-85513400	Bivalent Enhancer	Fetal Heart	heart
45	chr1:85513000-85513400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr1:85513000-85513400	Bivalent Enhancer	Left Ventricle	heart
47	chr1:85513000-85513400	Bivalent Enhancer	Lung	lung
48	chr1:85513000-85513400	Enhancers	Ovary	ovary
49	chr1:85513000-85513400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr1:85513000-85513400	Bivalent/Poised TSS	NHDF-Ad	bronchial

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