Variant report

Variant	rs61312094
Chromosome Location	chr6:56629297-56629298
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56628856..56630508-chr6:56635256..56637905,2	MCF-7	breast:
2	chr6:56575771..56576356-chr6:56629025..56629997,2	MCF-7	breast:
3	chr6:56628605..56630387-chr6:56707812..56709919,2	MCF-7	breast:
4	chr6:56625069..56627235-chr6:56628459..56631328,2	K562	blood:
5	chr6:56610420..56612281-chr6:56629163..56631061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231441	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58655846	0.87[AFR][1000 genomes]
rs58905074	0.93[AFR][1000 genomes]
rs59689935	1.00[AFR][1000 genomes]
rs59866096	0.82[AFR][1000 genomes]
rs60360068	1.00[AFR][1000 genomes]
rs60804698	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56621400-56634200	Weak transcription	Spleen	Spleen
2	chr6:56622400-56637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:56622800-56631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:56623000-56631000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:56623200-56631000	Weak transcription	Fetal Lung	lung
6	chr6:56623600-56631000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:56623600-56637200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:56623600-56637600	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:56623800-56630200	Weak transcription	HSMMtube	muscle
10	chr6:56623800-56630400	Weak transcription	Fetal Stomach	stomach
11	chr6:56625200-56637800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:56625400-56631400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:56625600-56637000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:56625600-56649800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:56625800-56637000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:56626400-56631200	Weak transcription	HMEC	breast
17	chr6:56626400-56631200	Weak transcription	NHEK	skin
18	chr6:56626400-56637200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:56626600-56636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:56627200-56637400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:56627800-56633000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:56627800-56633400	Enhancers	Colon Smooth Muscle	Colon
23	chr6:56628200-56629400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:56628200-56629400	Enhancers	Right Ventricle	heart
25	chr6:56628200-56629600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:56628200-56629600	Enhancers	Left Ventricle	heart
27	chr6:56628200-56631600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:56628200-56638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:56628400-56629400	Enhancers	Right Atrium	heart
30	chr6:56628400-56629800	Enhancers	Psoas Muscle	Psoas
31	chr6:56628400-56633000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:56628400-56638400	Enhancers	Osteobl	bone
33	chr6:56628600-56629400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:56628600-56629400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:56628600-56629400	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:56628600-56629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:56628600-56629600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:56628600-56629600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:56628600-56629600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:56628600-56629600	Enhancers	Liver	Liver
41	chr6:56628600-56629600	Enhancers	Brain Substantia Nigra	brain
42	chr6:56628600-56629600	Enhancers	NHLF	lung
43	chr6:56628600-56630200	Enhancers	A549	lung
44	chr6:56628600-56631400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:56628600-56632000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:56628600-56632000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:56628600-56632000	Enhancers	Fetal Heart	heart
48	chr6:56628600-56633200	Enhancers	Brain Hippocampus Middle	brain
49	chr6:56628600-56634400	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:56628600-56638200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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