Variant report

Variant	rs56831847
Chromosome Location	chr1:76759941-76759942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76758604..76761482-chr1:76764775..76767017,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11162113	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11162116	0.98[ASN][1000 genomes]
rs12036155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414486	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537782	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3862905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3908823	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
2	chr1:76749200-76760000	Enhancers	Primary T cells from cord blood	blood
3	chr1:76750200-76760200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:76750400-76760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:76750400-76760600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:76750400-76762000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:76753600-76760200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:76754000-76761600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
10	chr1:76756600-76760400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:76756600-76764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:76756600-76764400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:76756800-76763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:76757000-76760400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:76757200-76760400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:76757200-76764200	Weak transcription	Fetal Thymus	thymus
17	chr1:76757200-76764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:76757600-76760400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:76758200-76760400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:76758200-76762400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:76758400-76760200	Weak transcription	Fetal Kidney	kidney
22	chr1:76758400-76762400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:76758600-76760200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:76758600-76760200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:76758800-76760000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:76758800-76762400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:76759000-76760200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:76759000-76761200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:76759000-76761200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:76759000-76761200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:76759000-76761400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:76759000-76762400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:76759200-76761000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:76759600-76760400	Enhancers	Fetal Brain Female	brain
35	chr1:76759600-76760800	Enhancers	GM12878-XiMat	blood
36	chr1:76759800-76760000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:76759800-76761200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr1:76759800-76762400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:76759800-76766600	Weak transcription	Brain Substantia Nigra	brain

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