Variant report

Variant	rs17001246
Chromosome Location	chr4:76870249-76870250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr4:76870151-76870590	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76861783..76864488-chr4:76869135..76870713,2	K562	blood:

Variant related genes	Relation type
ENSG00000268788	TF binding region
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17001265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001354	1.00[AMR][1000 genomes]
rs17001355	1.00[AMR][1000 genomes]
rs17001359	1.00[AMR][1000 genomes]
rs17001362	1.00[AMR][1000 genomes]
rs17001366	1.00[AMR][1000 genomes]
rs17001367	1.00[AMR][1000 genomes]
rs41457447	1.00[AMR][1000 genomes]
rs4382064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4487370	1.00[AMR][1000 genomes]
rs55998455	1.00[AMR][1000 genomes]
rs56252973	1.00[AMR][1000 genomes]
rs56350100	1.00[AMR][1000 genomes]
rs57005804	1.00[AMR][1000 genomes]
rs57415085	1.00[AMR][1000 genomes]
rs58605269	1.00[AMR][1000 genomes]
rs60337837	1.00[AMR][1000 genomes]
rs60367545	1.00[AMR][1000 genomes]
rs60885790	1.00[AMR][1000 genomes]
rs61253655	1.00[AMR][1000 genomes]
rs62639704	1.00[AMR][1000 genomes]
rs73825715	1.00[AMR][1000 genomes]
rs73825720	1.00[AMR][1000 genomes]
rs73825882	1.00[AMR][1000 genomes]
rs73826307	1.00[AMR][1000 genomes]
rs73826308	1.00[AMR][1000 genomes]
rs73826312	1.00[AMR][1000 genomes]
rs73826315	1.00[AMR][1000 genomes]
rs7661525	1.00[AMR][1000 genomes]
rs7685216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
2	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
3	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
4	chr4:76862200-76871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76862200-76871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:76862200-76875200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:76862200-76876400	Weak transcription	Gastric	stomach
8	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:76862400-76873400	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
12	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
13	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
14	chr4:76862600-76870600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:76862600-76870800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:76862600-76871000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:76862600-76871000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:76862600-76871400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:76862600-76871400	Weak transcription	Right Ventricle	heart
20	chr4:76862600-76871600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:76862600-76872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:76862600-76872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:76862600-76873200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:76862600-76873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:76862600-76873400	Weak transcription	NHLF	lung
26	chr4:76862600-76873600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:76862600-76874400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
29	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
30	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
31	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
32	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
33	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:76864800-76875200	Strong transcription	HSMM	muscle
37	chr4:76864800-76883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:76864800-76884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:76864800-76884600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:76866200-76883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76866600-76883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:76867400-76874000	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:76867400-76875200	Strong transcription	NHDF-Ad	bronchial
46	chr4:76867400-76882600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr4:76867400-76882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:76867400-76883000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr4:76867400-76883200	Strong transcription	Osteobl	bone
50	chr4:76867400-76885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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