Variant report

Variant	rs4240537
Chromosome Location	chr1:114619557-114619558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
2	chr1:114585196..114589086-chr1:114619214..114622779,3	MCF-7	breast:
3	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
4	chr1:114619110..114621126-chr1:114623734..114625558,2	MCF-7	breast:
5	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10858028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102721	0.86[EUR][1000 genomes]
rs11102722	0.86[EUR][1000 genomes]
rs11102727	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1330700	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1394075	0.84[EUR][1000 genomes]
rs1587773	0.86[EUR][1000 genomes]
rs1604781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1910486	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2774291	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2938317	0.87[EUR][1000 genomes]
rs2938321	0.86[EUR][1000 genomes]
rs2938324	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2938325	0.86[EUR][1000 genomes]
rs2938334	0.87[EUR][1000 genomes]
rs2938335	0.86[EUR][1000 genomes]
rs2938339	0.82[EUR][1000 genomes]
rs2938342	0.86[EUR][1000 genomes]
rs2938345	0.82[EUR][1000 genomes]
rs2938349	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2938350	0.86[EUR][1000 genomes]
rs2938351	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2938353	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3006991	0.81[EUR][1000 genomes]
rs3006994	0.83[EUR][1000 genomes]
rs3006995	0.84[EUR][1000 genomes]
rs3007004	0.87[EUR][1000 genomes]
rs3007005	0.86[EUR][1000 genomes]
rs3007007	0.87[EUR][1000 genomes]
rs3007010	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3007012	0.93[EUR][1000 genomes]
rs3007013	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514647	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs529171	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs548040	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6537808	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429734	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114616800-114620200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:114617200-114619600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:114617200-114620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:114617200-114620200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:114617400-114619600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:114617400-114620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:114617600-114619600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:114617800-114619600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:114618000-114623400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:114618600-114621200	Enhancers	K562	blood
11	chr1:114618800-114619600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:114618800-114620000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:114618800-114623200	Weak transcription	Fetal Lung	lung
14	chr1:114619000-114620800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:114619000-114623200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:114619200-114619600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:114619200-114619800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:114619200-114620200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:114619200-114620800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:114619200-114621000	Weak transcription	GM12878-XiMat	blood
21	chr1:114619200-114623400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:114619400-114621200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:114619400-114621200	Weak transcription	Psoas Muscle	Psoas
25	chr1:114619400-114621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:114619400-114623600	Weak transcription	Right Atrium	heart

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