Variant report

Variant	rs784383
Chromosome Location	chr1:211569415-211569416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211565192..211566756-chr1:211567269..211570151,2	K562	blood:
2	chr1:211565165..211567494-chr1:211569278..211571043,2	K562	blood:
3	chr1:211554768..211559509-chr1:211560606..211570007,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10449313	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1055565	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1084981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863888	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10863895	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12116749	0.88[EUR][1000 genomes]
rs1533217	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1663522	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777827	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2063569	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798559	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2920908	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2920911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3002258	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738199	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951520	0.81[EUR][1000 genomes]
rs4951523	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951741	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6667740	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696938	0.80[EUR][1000 genomes]
rs6703361	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7520989	0.83[EUR][1000 genomes]
rs7538692	0.81[EUR][1000 genomes]
rs7550702	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784369	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784379	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs784382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211569800	Weak transcription	Ovary	ovary
4	chr1:211557000-211571400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:211557000-211572400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:211557000-211573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
9	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
12	chr1:211557200-211569600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:211557200-211571000	Weak transcription	Fetal Lung	lung
14	chr1:211557200-211572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:211557200-211573400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:211557400-211569600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:211557400-211569600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:211557400-211570000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:211557400-211570600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:211557400-211570600	Weak transcription	Osteobl	bone
21	chr1:211557400-211571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:211557400-211571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:211557400-211571600	Weak transcription	Fetal Heart	heart
24	chr1:211557400-211572800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:211557400-211572800	Weak transcription	K562	blood
26	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:211557600-211571400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:211557600-211573400	Weak transcription	GM12878-XiMat	blood
32	chr1:211557600-211573400	Weak transcription	Hela-S3	cervix
33	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:211560800-211569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:211560800-211569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:211560800-211571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:211560800-211571400	Weak transcription	HSMMtube	muscle
38	chr1:211561600-211573000	Weak transcription	Right Ventricle	heart
39	chr1:211563400-211572000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:211564400-211571400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:211564800-211570800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:211565200-211573000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:211565600-211574000	Strong transcription	Liver	Liver
44	chr1:211565800-211569600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:211566000-211571400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:211566200-211572800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:211566800-211570400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr1:211566800-211572000	Weak transcription	Colonic Mucosa	Colon
49	chr1:211566800-211574600	Weak transcription	Pancreas	Pancrea
50	chr1:211566800-211574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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