Variant report

Variant	rs41285010
Chromosome Location	chr1:57174288-57174289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:55750589..55751527-chr1:57174232..57175597,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11584961	1.00[ASN][1000 genomes]
rs55717918	1.00[ASN][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57154200-57174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:57154400-57174600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:57154400-57174800	Weak transcription	Gastric	stomach
4	chr1:57159800-57174800	Weak transcription	Fetal Stomach	stomach
5	chr1:57160000-57174800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:57160200-57174600	Weak transcription	Fetal Brain Male	brain
7	chr1:57160400-57174800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:57162600-57174600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:57162800-57176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:57166200-57174800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:57166200-57178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:57166600-57175600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:57166600-57175600	Weak transcription	Right Ventricle	heart
14	chr1:57169000-57174400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:57169800-57174800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:57170000-57174600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:57170000-57175200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:57170000-57181200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:57170200-57174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:57170200-57174800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:57170200-57174800	Weak transcription	Pancreas	Pancrea
22	chr1:57170200-57175200	Weak transcription	Fetal Heart	heart
23	chr1:57170200-57175200	Weak transcription	Ovary	ovary
24	chr1:57170200-57175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:57170200-57176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:57170200-57176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:57170200-57185000	Weak transcription	Liver	Liver
28	chr1:57170400-57176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:57171600-57175200	Weak transcription	NH-A	brain
30	chr1:57171800-57175400	Weak transcription	NHLF	lung
31	chr1:57172000-57176000	Weak transcription	Hela-S3	cervix
32	chr1:57172200-57174800	Weak transcription	Aorta	Aorta
33	chr1:57172400-57174800	Weak transcription	A549	lung
34	chr1:57172400-57175800	Weak transcription	HepG2	liver
35	chr1:57172600-57175200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:57172800-57176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:57173200-57174800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:57173400-57175000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:57173400-57175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:57173400-57175000	Weak transcription	Fetal Brain Female	brain
41	chr1:57173400-57175000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:57173400-57175000	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:57173400-57176000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:57173400-57181400	Weak transcription	Left Ventricle	heart
45	chr1:57173400-57184200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:57173800-57175400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:57173800-57175400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:57173800-57175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:57173800-57176000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:57174200-57174400	Enhancers	Psoas Muscle	Psoas

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