Variant report

Variant	rs530981743
Chromosome Location	chr1:221884239-221884240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221882812..221884320-chr1:221889796..221891918,2	MCF-7	breast:
2	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221870000-221885400	Weak transcription	NHEK	skin
3	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:221873200-221885200	Weak transcription	NH-A	brain
5	chr1:221873800-221885200	Weak transcription	Hela-S3	cervix
6	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
7	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
8	chr1:221878000-221885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:221879400-221884600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:221879400-221885000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:221879600-221886200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
14	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
15	chr1:221879800-221885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:221879800-221886200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr1:221879800-221886400	Weak transcription	Spleen	Spleen
18	chr1:221879800-221887000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
21	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
24	chr1:221880000-221886200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:221880000-221886200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:221880200-221885400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:221880200-221885600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:221880200-221886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:221880200-221886400	Weak transcription	Aorta	Aorta
31	chr1:221880200-221889200	Weak transcription	Right Atrium	heart
32	chr1:221880400-221885800	Enhancers	Primary T cells from cord blood	blood
33	chr1:221880400-221886000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:221880400-221886200	Enhancers	Dnd41	blood
35	chr1:221880400-221886600	Enhancers	Brain Anterior Caudate	brain
36	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:221880800-221884800	Weak transcription	NHDF-Ad	bronchial
38	chr1:221880800-221887600	Enhancers	Liver	Liver
39	chr1:221881000-221888600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:221881400-221884400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:221881400-221885800	Enhancers	Stomach Mucosa	stomach
42	chr1:221881400-221886600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:221881400-221886800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:221881400-221887400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:221881400-221888200	Enhancers	HepG2	liver
46	chr1:221881600-221884600	Enhancers	Brain Germinal Matrix	brain
47	chr1:221881600-221885400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:221881600-221886200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:221881800-221888600	Weak transcription	Placenta	Placenta
50	chr1:221882000-221884400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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