Variant report

Variant	rs56144043
Chromosome Location	chr6:126382507-126382508
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:126380793..126384828-chr6:126388829..126393617,5	K562	blood:
2	chr6:126380914..126383658-chr6:126391476..126393617,2	K562	blood:
3	chr6:126380926..126383776-chr6:126395181..126398838,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17053741	0.89[AFR][1000 genomes]
rs58690278	1.00[AMR][1000 genomes]
rs58864666	1.00[AMR][1000 genomes]
rs59571620	1.00[AMR][1000 genomes]
rs73773328	1.00[AMR][1000 genomes]
rs73773351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773365	1.00[AMR][1000 genomes]
rs73773366	1.00[AMR][1000 genomes]
rs73773373	1.00[AMR][1000 genomes]
rs9491552	0.87[AFR][1000 genomes]
rs9491555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019490	chr6:126248596-126542296	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1022677	chr6:126256752-126516305	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv886636	chr6:126278230-126383476	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1015834	chr6:126376458-126634409	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126308200-126403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:126319000-126401400	Weak transcription	Esophagus	oesophagus
3	chr6:126330000-126392000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:126334800-126391600	Weak transcription	Thymus	Thymus
5	chr6:126339200-126384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:126342400-126388000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:126355200-126391200	Weak transcription	Right Ventricle	heart
8	chr6:126358400-126395800	Weak transcription	Brain Angular Gyrus	brain
9	chr6:126360000-126384000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:126361000-126391600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:126362000-126385000	Weak transcription	Small Intestine	intestine
12	chr6:126362200-126396800	Weak transcription	Primary B cells from cord blood	blood
13	chr6:126362400-126387000	Weak transcription	Hela-S3	cervix
14	chr6:126362600-126391000	Weak transcription	HMEC	breast
15	chr6:126363600-126384400	Weak transcription	NHLF	lung
16	chr6:126363800-126396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:126364000-126384600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:126364000-126384800	Weak transcription	Fetal Kidney	kidney
19	chr6:126366200-126387800	Weak transcription	Spleen	Spleen
20	chr6:126368800-126389000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:126369000-126393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:126369400-126384000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:126369800-126382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:126369800-126385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:126369800-126386600	Weak transcription	NHEK	skin
26	chr6:126370000-126382600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:126370000-126384800	Weak transcription	Fetal Thymus	thymus
28	chr6:126370000-126387000	Weak transcription	HSMMtube	muscle
29	chr6:126370000-126388600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:126370200-126384400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:126370200-126384600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:126370200-126384800	Weak transcription	Gastric	stomach
33	chr6:126370200-126386000	Weak transcription	Lung	lung
34	chr6:126370200-126387800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:126370200-126390800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:126370200-126428600	Weak transcription	Ovary	ovary
37	chr6:126370400-126393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:126370600-126385800	Weak transcription	Fetal Lung	lung
39	chr6:126372800-126385600	Weak transcription	A549	lung
40	chr6:126372800-126386400	Weak transcription	Right Atrium	heart
41	chr6:126373200-126384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:126374200-126400400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:126374400-126384600	Weak transcription	NH-A	brain
44	chr6:126374600-126387200	Weak transcription	Left Ventricle	heart
45	chr6:126374800-126387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:126374800-126390200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:126375000-126386800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:126375200-126383400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:126375200-126384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:126375400-126382800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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