Variant report

Variant	rs57418286
Chromosome Location	chr1:94049092-94049093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94048697..94050277-chr1:94063385..94066022,2	MCF-7	breast:
2	chr1:94046974..94050616-chr1:94310637..94313716,4	MCF-7	breast:
3	chr1:94042226..94044912-chr1:94048849..94050610,3	MCF-7	breast:
4	chr1:94048472..94052407-chr1:94077212..94082015,4	MCF-7	breast:
5	chr1:94043354..94045487-chr1:94047410..94050029,2	K562	blood:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12094668	1.00[EUR][1000 genomes]
rs55668649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55774036	1.00[AMR][1000 genomes]
rs55925711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936005	1.00[EUR][1000 genomes]
rs60514624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681200	1.00[EUR][1000 genomes]
rs74101610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101611	1.00[EUR][1000 genomes]
rs74101615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101616	1.00[EUR][1000 genomes]
rs74101617	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101657	1.00[EUR][1000 genomes]
rs9782878	1.00[EUR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
2	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
3	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
4	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:94041000-94049400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:94042800-94050600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:94043200-94049800	Weak transcription	Fetal Kidney	kidney
20	chr1:94043200-94050400	Strong transcription	NHEK	skin
21	chr1:94044600-94049800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:94044800-94049600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:94045000-94050400	Genic enhancers	A549	lung
24	chr1:94045400-94050200	Weak transcription	Psoas Muscle	Psoas
25	chr1:94045400-94053600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:94045600-94050200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:94045800-94050000	Weak transcription	Right Atrium	heart
28	chr1:94045800-94050200	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr1:94046000-94049600	Strong transcription	Fetal Stomach	stomach
30	chr1:94046000-94049800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:94046000-94050200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:94046000-94050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:94046000-94051600	Strong transcription	NH-A	brain
34	chr1:94046200-94049600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94046400-94050400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:94046600-94050200	Weak transcription	HSMMtube	muscle
37	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:94046800-94049400	Strong transcription	HSMM	muscle
39	chr1:94046800-94049800	Genic enhancers	Liver	Liver
40	chr1:94047000-94049600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:94047000-94050200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:94047000-94050200	Strong transcription	NHLF	lung
43	chr1:94047000-94051200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:94047200-94049400	Strong transcription	Osteobl	bone
45	chr1:94047200-94049600	Strong transcription	Ovary	ovary
46	chr1:94047200-94051000	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr1:94047200-94053600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:94047400-94049600	Strong transcription	Aorta	Aorta
49	chr1:94047400-94049600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
50	chr1:94047400-94050800	Strong transcription	Primary B cells from peripheral blood	blood

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