Variant report

Variant	rs41285896
Chromosome Location	chr1:57175117-57175118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56874466..56875023-chr1:57174644..57175624,2	K562	blood:
2	chr1:55750589..55751527-chr1:57174232..57175597,4	K562	blood:
3	chr1:57174557..57176928-chr1:57179805..57181791,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17848597	1.00[EUR][1000 genomes]
rs3738568	1.00[EUR][1000 genomes]
rs72666481	1.00[AMR][1000 genomes]
rs72668308	0.90[EUR][1000 genomes]
rs72668309	1.00[EUR][1000 genomes]
rs72668317	1.00[EUR][1000 genomes]
rs72668319	0.90[EUR][1000 genomes]
rs72668321	1.00[EUR][1000 genomes]
rs72668325	0.90[EUR][1000 genomes]
rs72668327	0.90[EUR][1000 genomes]
rs72668334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57162800-57176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:57166200-57178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57166600-57175600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57166600-57175600	Weak transcription	Right Ventricle	heart
5	chr1:57170000-57175200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57170000-57181200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:57170200-57175200	Weak transcription	Fetal Heart	heart
8	chr1:57170200-57175200	Weak transcription	Ovary	ovary
9	chr1:57170200-57175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57170200-57176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:57170200-57176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:57170200-57185000	Weak transcription	Liver	Liver
13	chr1:57170400-57176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:57171600-57175200	Weak transcription	NH-A	brain
15	chr1:57171800-57175400	Weak transcription	NHLF	lung
16	chr1:57172000-57176000	Weak transcription	Hela-S3	cervix
17	chr1:57172400-57175800	Weak transcription	HepG2	liver
18	chr1:57172600-57175200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:57172800-57176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:57173400-57176000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:57173400-57181400	Weak transcription	Left Ventricle	heart
22	chr1:57173400-57184200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:57173800-57175400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:57173800-57175400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:57173800-57175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:57173800-57176000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:57174400-57176200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:57174600-57176000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:57174800-57175600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:57174800-57177200	Enhancers	A549	lung
31	chr1:57174800-57177400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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