Variant report

Variant	rs7530485
Chromosome Location	chr1:84613588-84613589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3729862	1.00[AFR][1000 genomes]
rs41300510	1.00[AFR][1000 genomes]
rs41301144	1.00[AFR][1000 genomes]
rs41301146	1.00[AFR][1000 genomes]
rs58384983	0.86[AFR][1000 genomes]
rs7513220	0.86[AFR][1000 genomes]

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:52 , 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	chr1:84609600-84613800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:84609600-84614000	Active TSS	Primary T cells fromperipheralblood	blood
5	chr1:84609800-84613800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:84610200-84613800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:84610200-84621800	Weak transcription	Aorta	Aorta
8	chr1:84610200-84621800	Weak transcription	Small Intestine	intestine
9	chr1:84610200-84622000	Weak transcription	HSMM	muscle
10	chr1:84610400-84613600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:84610400-84614200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:84610400-84633400	Weak transcription	Fetal Kidney	kidney
13	chr1:84611200-84613800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:84611200-84616800	Weak transcription	GM12878-XiMat	blood
15	chr1:84611200-84617000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:84611400-84613600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:84611600-84629800	Weak transcription	Fetal Stomach	stomach
18	chr1:84612000-84613800	Flanking Active TSS	Dnd41	blood
19	chr1:84612000-84615200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:84612200-84614800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:84612200-84615200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:84612400-84614000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:84612400-84615000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:84612400-84615200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:84612600-84613600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:84612600-84614000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:84612600-84621400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:84612600-84621400	Weak transcription	NHDF-Ad	bronchial
29	chr1:84612600-84621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:84612600-84621800	Weak transcription	NH-A	brain
31	chr1:84612800-84613600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:84612800-84613800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:84612800-84615200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:84612800-84615400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:84612800-84616200	Weak transcription	Fetal Thymus	thymus
36	chr1:84612800-84617000	Weak transcription	Thymus	Thymus
37	chr1:84612800-84621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:84612800-84628800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:84613000-84613600	Enhancers	Primary B cells from cord blood	blood
40	chr1:84613000-84613800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:84613000-84614000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:84613200-84613600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:84613200-84614000	Enhancers	HUVEC	blood vessel
44	chr1:84613200-84614800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:84613200-84615000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:84613200-84623400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:84613400-84613600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr1:84613400-84613800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:84613400-84614000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:84613400-84614000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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