Variant report

Variant	rs2157587
Chromosome Location	chr1:175115048-175115049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175112176..175115061-chr1:175238573..175241194,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1011808	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10732995	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10753090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753092	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs10912897	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142507	0.84[AMR][1000 genomes]
rs2861156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140637	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs4390138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650703	1.00[AFR][1000 genomes]
rs4650707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650725	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4651340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651360	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6425324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533495	1.00[CEU][hapmap]
rs760487	1.00[AFR][1000 genomes];0.91[AMR][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	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv429924	chr1:175110480-175134314	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1483160	chr1:175115048-175115049	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175108000-175119800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
3	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:175111600-175115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:175111600-175115600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:175111600-175116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:175111600-175119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:175111800-175115600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:175112400-175115600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:175112400-175115600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:175114800-175115200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:175114800-175115200	Enhancers	HepG2	liver
13	chr1:175114800-175115400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:175114800-175115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:175114800-175115800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:175114800-175115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:175114800-175115800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:175114800-175115800	Flanking Active TSS	Liver	Liver
19	chr1:175114800-175116400	Enhancers	HMEC	breast
20	chr1:175115000-175115800	Enhancers	NHEK	skin
21	chr1:175115000-175116200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:175115000-175116600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:175115000-175125000	Weak transcription	Right Atrium	heart

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