Variant report

Variant	rs548692484
Chromosome Location	chr1:161695778-161695779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
2	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
3	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction
ENSG00000143226	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv3343743	chr1:161695553-161698101	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161695000-161696000	Enhancers	Spleen	Spleen
2	chr1:161695200-161695800	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:161695400-161695800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr1:161695400-161695800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:161695400-161695800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:161695400-161695800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:161695400-161695800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:161695400-161695800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:161695400-161695800	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr1:161695400-161695800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:161695400-161695800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:161695400-161695800	Flanking Active TSS	A549	lung
13	chr1:161695400-161695800	Active TSS	HSMM	muscle
14	chr1:161695400-161696000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:161695400-161696000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:161695400-161696000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:161695400-161696000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:161695400-161696000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:161695400-161696200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:161695400-161696200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:161695400-161696200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr1:161695400-161696200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:161695400-161696200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:161695400-161696200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:161695400-161696200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:161695400-161696200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr1:161695400-161696200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr1:161695400-161696200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr1:161695400-161696200	Flanking Active TSS	NHEK	skin
30	chr1:161695400-161696400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr1:161695400-161696400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr1:161695400-161696400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161695400-161696400	Flanking Active TSS	NH-A	brain
34	chr1:161695400-161696600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:161695400-161696600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:161695400-161696600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr1:161695400-161696800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr1:161695400-161696800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:161695400-161697200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:161695400-161697400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr1:161695400-161697600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:161695400-161697600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:161695400-161697600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:161695400-161697600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:161695400-161697600	Active TSS	Brain Substantia Nigra	brain
48	chr1:161695400-161697600	Active TSS	Fetal Kidney	kidney
49	chr1:161695400-161697800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:161695400-161697800	Active TSS	Brain Angular Gyrus	brain

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