Variant report

Variant	rs56142919
Chromosome Location	chr6:29561468-29561469
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	chr6:29560060..29561694-chr6:29565009..29566876,2	K562	blood:
2	chr6:29560551..29562485-chr6:29568243..29569755,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16895101	0.94[ASN][1000 genomes]
rs16895218	0.82[AMR][1000 genomes]
rs2057010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058325	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2058326	0.83[ASN][1000 genomes]
rs28359971	0.85[ASN][1000 genomes]
rs28359972	0.87[ASN][1000 genomes]
rs28749524	0.87[ASN][1000 genomes]
rs29219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29233	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs29254	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs29256	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29266	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3025628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3025642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362515	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs362517	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55701059	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55871431	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55888673	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55971964	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56020557	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56045105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106029	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56155438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62392941	0.96[ASN][1000 genomes]
rs62392942	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392943	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62392946	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62406580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62406582	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62406583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406584	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831507	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv5239	chr6:29527407-29566446	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29546200-29569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:29559400-29568400	Weak transcription	HMEC	breast
3	chr6:29560000-29564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:29560200-29561600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:29560800-29561600	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:29560800-29562000	Enhancers	Fetal Heart	heart
7	chr6:29561000-29561600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:29561000-29561600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:29561000-29561600	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:29561000-29562000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:29561200-29561600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:29561200-29561600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:29561200-29561600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:29561200-29561600	Enhancers	Fetal Stomach	stomach
15	chr6:29561200-29561800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:29561200-29561800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:29561200-29561800	Enhancers	Fetal Lung	lung
18	chr6:29561200-29562000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:29561200-29562000	Enhancers	Fetal Muscle Leg	muscle
20	chr6:29561200-29562400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:29561200-29567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:29561400-29561600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:29561400-29561600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:29561400-29561600	Enhancers	Brain Hippocampus Middle	brain
25	chr6:29561400-29561600	Enhancers	Lung	lung
26	chr6:29561400-29561600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:29561400-29561600	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:29561400-29561600	Enhancers	Right Ventricle	heart
29	chr6:29561400-29561600	Enhancers	Spleen	Spleen
30	chr6:29561400-29561800	Enhancers	HSMMtube	muscle
31	chr6:29561400-29562000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:29561400-29562000	Enhancers	Left Ventricle	heart
33	chr6:29561400-29562000	Enhancers	Ovary	ovary
34	chr6:29561400-29562800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:29561400-29563000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:29561400-29567200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:29561400-29567600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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