Variant report

Variant	rs73086317
Chromosome Location	chr1:213224929-213224930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213187916..213191474-chr1:213223097..213226356,5	K562	blood:
2	chr1:213188825..213190728-chr1:213222994..213225299,2	MCF-7	breast:
3	chr1:213187916..213189691-chr1:213222882..213226054,4	K562	blood:
4	chr1:213184074..213185993-chr1:213223690..213226218,2	K562	blood:

Variant related genes	Relation type
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35694574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41296720	1.00[AMR][1000 genomes]
rs41300021	1.00[AMR][1000 genomes]
rs57219112	1.00[AMR][1000 genomes]
rs57638446	1.00[AMR][1000 genomes]
rs57750357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860298	1.00[AMR][1000 genomes]
rs59595887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	1.00[AMR][1000 genomes]
rs73075782	1.00[AMR][1000 genomes]
rs73077863	1.00[AMR][1000 genomes]
rs73077871	1.00[AMR][1000 genomes]
rs73079978	1.00[AMR][1000 genomes]
rs73079997	1.00[AMR][1000 genomes]
rs73080000	1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093616	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093622	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213223600-213225200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:213223600-213225200	Active TSS	Fetal Lung	lung
3	chr1:213223600-213225200	Active TSS	A549	lung
4	chr1:213223600-213225400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:213223600-213225800	Active TSS	Psoas Muscle	Psoas
6	chr1:213223600-213225800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:213223800-213225200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:213223800-213225200	Active TSS	Fetal Kidney	kidney
9	chr1:213223800-213225200	Active TSS	NH-A	brain
10	chr1:213223800-213225400	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:213223800-213225600	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:213223800-213226000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:213224000-213225000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr1:213224000-213225200	Active TSS	Primary T cells from cord blood	blood
15	chr1:213224000-213225200	Active TSS	Fetal Brain Female	brain
16	chr1:213224000-213225200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:213224000-213225200	Active TSS	HMEC	breast
18	chr1:213224000-213225400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:213224000-213225400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:213224000-213225400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:213224000-213225400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:213224000-213225400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:213224000-213225400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:213224000-213225400	Active TSS	Colonic Mucosa	Colon
25	chr1:213224000-213225400	Active TSS	Fetal Muscle Trunk	muscle
26	chr1:213224000-213225400	Active TSS	Left Ventricle	heart
27	chr1:213224000-213225400	Active TSS	Ovary	ovary
28	chr1:213224000-213225600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:213224000-213225600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:213224000-213225600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:213224000-213225600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:213224000-213225600	Active TSS	Right Atrium	heart
33	chr1:213224000-213225600	Active TSS	NHDF-Ad	bronchial
34	chr1:213224000-213225800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:213224000-213226400	Active TSS	HSMMtube	muscle
36	chr1:213224200-213225000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:213224200-213225000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:213224200-213225000	Active TSS	HepG2	liver
39	chr1:213224200-213225200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:213224200-213225200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:213224200-213225200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:213224200-213225200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:213224200-213225200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:213224200-213225200	Active TSS	Brain Hippocampus Middle	brain
45	chr1:213224200-213225200	Active TSS	Colon Smooth Muscle	Colon
46	chr1:213224200-213225200	Active TSS	Fetal Intestine Small	intestine
47	chr1:213224200-213225200	Active TSS	Fetal Stomach	stomach
48	chr1:213224200-213225200	Active TSS	Lung	lung
49	chr1:213224200-213225200	Active TSS	Pancreas	Pancrea
50	chr1:213224200-213225200	Active TSS	Sigmoid Colon	Sigmoid Colon

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