Variant report

Variant	rs567849919
Chromosome Location	chr1:84612470-84612471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:84607000-84613600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:84609400-84612800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:84609400-84612800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:84609600-84612600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:84609600-84612600	Enhancers	NHDF-Ad	bronchial
7	chr1:84609600-84612600	Enhancers	NHEK	skin
8	chr1:84609600-84612600	Enhancers	Osteobl	bone
9	chr1:84609600-84612800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:84609600-84613000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:84609600-84613800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:84609600-84614000	Active TSS	Primary T cells fromperipheralblood	blood
13	chr1:84609800-84612800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr1:84609800-84612800	Active TSS	Fetal Thymus	thymus
15	chr1:84609800-84612800	Active TSS	Thymus	Thymus
16	chr1:84609800-84612800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:84609800-84613000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:84609800-84613000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:84609800-84613400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:84609800-84613800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:84610000-84612600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:84610000-84612600	Active TSS	Colonic Mucosa	Colon
23	chr1:84610000-84612600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr1:84610000-84612600	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:84610200-84613800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:84610200-84621800	Weak transcription	Aorta	Aorta
27	chr1:84610200-84621800	Weak transcription	Small Intestine	intestine
28	chr1:84610200-84622000	Weak transcription	HSMM	muscle
29	chr1:84610400-84613600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:84610400-84614200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
32	chr1:84611200-84613800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:84611200-84616800	Weak transcription	GM12878-XiMat	blood
34	chr1:84611200-84617000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:84611400-84612600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:84611400-84613200	Enhancers	A549	lung
37	chr1:84611400-84613600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:84611600-84612600	Enhancers	NH-A	brain
39	chr1:84611600-84613000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:84611600-84613200	Flanking Active TSS	HUVEC	blood vessel
41	chr1:84611600-84629800	Weak transcription	Fetal Stomach	stomach
42	chr1:84611800-84612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:84611800-84612800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:84611800-84612800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:84612000-84612600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:84612000-84613800	Flanking Active TSS	Dnd41	blood
47	chr1:84612000-84615200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:84612200-84612600	Active TSS	Primary T cells from cord blood	blood
49	chr1:84612200-84612600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:84612200-84612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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