Variant report

Variant	rs59643604
Chromosome Location	chr6:56617737-56617738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56614450..56616010-chr6:56617525..56619069,2	MCF-7	breast:
2	chr6:56563883..56565505-chr6:56616618..56618312,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4413617	1.00[AFR][1000 genomes]
rs4520018	1.00[AFR][1000 genomes]
rs57183853	0.91[AFR][1000 genomes]
rs57439200	0.91[AFR][1000 genomes]
rs57936670	1.00[AFR][1000 genomes]
rs58912662	1.00[AFR][1000 genomes]
rs59493539	1.00[AFR][1000 genomes]
rs59801210	1.00[AFR][1000 genomes]
rs60143048	0.91[AFR][1000 genomes]
rs60172134	1.00[AFR][1000 genomes]
rs60304191	1.00[AFR][1000 genomes]
rs61396940	0.91[AFR][1000 genomes]
rs7753074	0.84[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56593200-56621200	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:56607200-56618200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:56607600-56620600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:56608200-56621000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:56608600-56618000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:56609200-56619200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:56611600-56625800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:56612200-56620800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:56612400-56621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:56614000-56621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:56614200-56619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:56614200-56619400	Enhancers	Osteobl	bone
13	chr6:56614400-56618000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:56614400-56619400	Enhancers	NHDF-Ad	bronchial
15	chr6:56614400-56619600	Enhancers	Brain Hippocampus Middle	brain
16	chr6:56614600-56617800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:56614800-56620600	Weak transcription	Aorta	Aorta
18	chr6:56615000-56618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:56615000-56618000	Weak transcription	Right Ventricle	heart
20	chr6:56615000-56618800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:56615000-56620000	Weak transcription	Psoas Muscle	Psoas
22	chr6:56615000-56620600	Weak transcription	Left Ventricle	heart
23	chr6:56615000-56620800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:56615000-56620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:56615000-56620800	Weak transcription	Right Atrium	heart
26	chr6:56615000-56620800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:56615000-56621000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:56615000-56621400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:56615000-56625000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:56615200-56618000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:56615200-56619600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:56615200-56620800	Weak transcription	Stomach Mucosa	stomach
33	chr6:56615200-56621000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:56615200-56621000	Weak transcription	HUVEC	blood vessel
35	chr6:56615400-56618600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:56615400-56620800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:56615600-56620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:56615800-56618200	Weak transcription	NHLF	lung
39	chr6:56615800-56618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:56615800-56620200	Weak transcription	Fetal Brain Male	brain
41	chr6:56615800-56624000	Enhancers	Fetal Heart	heart
42	chr6:56616600-56618600	Enhancers	Colon Smooth Muscle	Colon
43	chr6:56616600-56620000	Weak transcription	Fetal Lung	lung
44	chr6:56616600-56621000	Weak transcription	HSMMtube	muscle
45	chr6:56616800-56617800	Weak transcription	GM12878-XiMat	blood
46	chr6:56616800-56618800	Enhancers	Brain Substantia Nigra	brain
47	chr6:56616800-56620000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:56617000-56618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:56617000-56618800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:56617000-56620000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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