Variant report

Variant	rs6426998
Chromosome Location	chr1:154823021-154823022
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	chr1:154803405..154804925-chr1:154821285..154823065,2	K562	blood:
2	chr1:154814172..154816492-chr1:154821493..154823120,2	K562	blood:

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

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

rs_ID	r²[population]
rs11264275	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044470	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12045303	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2878411	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845396	0.82[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845676	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906595	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 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	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:154812400-154824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:154815800-154823200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:154817800-154823200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr1:154819200-154828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:154819400-154824200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:154820000-154824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:154820000-154826000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:154820800-154832600	Weak transcription	Right Atrium	heart
11	chr1:154821000-154823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:154821000-154832000	Weak transcription	HSMM	muscle
13	chr1:154821000-154837200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:154821200-154828400	Weak transcription	Psoas Muscle	Psoas
15	chr1:154821200-154828400	Weak transcription	Spleen	Spleen
16	chr1:154821200-154828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:154821400-154825200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:154821800-154823200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:154821800-154823200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:154821800-154823400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:154821800-154823400	Enhancers	Brain Germinal Matrix	brain
22	chr1:154822000-154823200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:154822000-154823400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:154822000-154824200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:154822000-154828000	Weak transcription	Brain Substantia Nigra	brain
26	chr1:154822200-154828000	Weak transcription	Fetal Stomach	stomach
27	chr1:154822600-154823200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:154822600-154824200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:154822800-154824200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:154822800-154824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:154822800-154824400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:154822800-154825000	Enhancers	GM12878-XiMat	blood
34	chr1:154822800-154826800	Weak transcription	Fetal Brain Female	brain
35	chr1:154822800-154828200	Weak transcription	HSMMtube	muscle
36	chr1:154822800-154832200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:154823000-154828000	Weak transcription	Brain Anterior Caudate	brain
38	chr1:154823000-154828600	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:154823000-154830600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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