Variant report

Variant	rs6593543
Chromosome Location	chr1:76968598-76968599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs315095	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4949724	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
3	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv997827	chr1:76929028-77201457	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv462017	chr1:76940156-76982445	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv546586	chr1:76940156-76982445	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv462028	chr1:76948044-76976522	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv546587	chr1:76948044-76976522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv462039	chr1:76948044-77019597	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv470718	chr1:76948044-77019597	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv546588	chr1:76948044-77019597	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv462050	chr1:76948044-77019986	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv462062	chr1:76948044-77019986	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv462073	chr1:76948044-77019986	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv546589	chr1:76948044-77019986	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76957800-76968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76960800-76969000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76965000-76969600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:76965000-76970400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:76966000-76969400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:76966000-76969600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:76966000-76969800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:76966200-76969600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:76966400-76970000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:76966600-76971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:76966800-76969600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:76967200-76977000	Weak transcription	Fetal Stomach	stomach
13	chr1:76967200-76977400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:76967400-76976800	Weak transcription	Fetal Kidney	kidney
15	chr1:76967600-76969000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:76967600-76969200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:76967600-76969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:76967600-76969600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:76967600-76969600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:76967600-76969600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:76967600-76970200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:76967800-76968800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:76967800-76968800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:76967800-76970000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:76968000-76969000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:76968000-76969200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:76968200-76976600	Weak transcription	Primary T cells from cord blood	blood

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