Variant report

Variant	rs72946347
Chromosome Location	chr1:84902184-84902185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11809752	1.00[AMR][1000 genomes]
rs57249159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57450857	1.00[AMR][1000 genomes]
rs59742045	1.00[AMR][1000 genomes]
rs72942047	1.00[AMR][1000 genomes]
rs72942059	1.00[AMR][1000 genomes]
rs72942078	1.00[AMR][1000 genomes]
rs72942082	1.00[AMR][1000 genomes]
rs72942100	1.00[AMR][1000 genomes]
rs72943903	1.00[AMR][1000 genomes]
rs72943915	1.00[AMR][1000 genomes]
rs72943959	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946374	1.00[AMR][1000 genomes]
rs72948407	1.00[AMR][1000 genomes]
rs72948417	1.00[AMR][1000 genomes]
rs72948425	1.00[AMR][1000 genomes]
rs72948447	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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84893400-84902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84898400-84903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:84899600-84902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:84899600-84902400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:84899600-84902400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:84899600-84902400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:84899600-84902400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:84899600-84902600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:84899600-84902600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:84899600-84902800	Weak transcription	Fetal Thymus	thymus
11	chr1:84899600-84903000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:84899600-84903200	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:84899600-84907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:84899600-84908200	Weak transcription	Stomach Mucosa	stomach
15	chr1:84899600-84908400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:84899800-84907800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:84900000-84902600	Weak transcription	Brain Substantia Nigra	brain
18	chr1:84900000-84902800	Weak transcription	Fetal Brain Female	brain
19	chr1:84900000-84903000	Weak transcription	Aorta	Aorta
20	chr1:84900600-84903000	Enhancers	Primary B cells from cord blood	blood
21	chr1:84901000-84902200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:84901200-84902200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:84901200-84902800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:84901200-84903000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:84901200-84903000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:84901200-84903800	Enhancers	Brain Anterior Caudate	brain
27	chr1:84901200-84908800	Weak transcription	NHLF	lung
28	chr1:84901400-84902200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:84901400-84902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:84901400-84903000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:84901400-84903200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:84901400-84903200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:84901400-84904000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:84901400-84907400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:84901400-84907600	Weak transcription	Dnd41	blood
36	chr1:84901600-84902200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:84901600-84902600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:84901600-84902800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:84901600-84902800	Weak transcription	GM12878-XiMat	blood
40	chr1:84901600-84903000	Enhancers	Primary T cells from cord blood	blood
41	chr1:84901600-84903800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:84901600-84908200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:84901800-84902400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:84901800-84902600	Weak transcription	Thymus	Thymus
45	chr1:84901800-84902800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:84901800-84902800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:84901800-84902800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:84901800-84902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:84901800-84902800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:84901800-84903000	Enhancers	Primary T helper cells fromperipheralblood	blood

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