Variant report

Variant	rs16849262
Chromosome Location	chr1:175830933-175830934
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	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11801671	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802080	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802096	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810072	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810084	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810955	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58613222	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59422229	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72711121	0.97[ASN][1000 genomes]
rs7543556	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175826600-175831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:175827400-175831000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:175827400-175831600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175827400-175831600	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:175827400-175831600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:175827400-175832800	Weak transcription	Fetal Brain Female	brain
7	chr1:175827600-175832000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:175827800-175831400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:175827800-175831600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:175827800-175831600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:175827800-175831800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:175827800-175831800	Weak transcription	Fetal Brain Male	brain
13	chr1:175828400-175831000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:175829800-175835000	Enhancers	Fetal Intestine Large	intestine
15	chr1:175830400-175831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:175830400-175831000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:175830400-175831600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:175830400-175832600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:175830400-175834800	Enhancers	Fetal Intestine Small	intestine
20	chr1:175830600-175831400	Enhancers	GM12878-XiMat	blood
21	chr1:175830600-175831600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:175830600-175831600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:175830600-175831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:175830600-175832600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:175830800-175831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:175830800-175831800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:175830800-175832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:175830800-175832200	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:175830800-175833000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:175830800-175834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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