Variant report

Variant	rs59948116
Chromosome Location	chr6:56416440-56416441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56406220..56410337-chr6:56413126..56418049,5	MCF-7	breast:
2	chr6:56408981..56412253-chr6:56415239..56417908,3	K562	blood:
3	chr6:56414327..56416748-chr6:56421847..56423517,2	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

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

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

rs_ID	r²[population]
rs17830661	0.92[AFR][1000 genomes]
rs4585566	1.00[AFR][1000 genomes]
rs56273018	0.88[AFR][1000 genomes]
rs56851245	0.96[AFR][1000 genomes]
rs57822928	0.92[AFR][1000 genomes]
rs58633665	1.00[AFR][1000 genomes]
rs59063378	0.92[AFR][1000 genomes]
rs73455767	0.92[AFR][1000 genomes]
rs73455787	0.83[AFR][1000 genomes]
rs73749957	1.00[AFR][1000 genomes]
rs73749958	1.00[AFR][1000 genomes]
rs73749960	1.00[AFR][1000 genomes]
rs73749980	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	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56416600	Weak transcription	Left Ventricle	heart
2	chr6:56408200-56416800	Weak transcription	Brain Germinal Matrix	brain
3	chr6:56408200-56416800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:56408200-56417000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:56408200-56417000	Weak transcription	Fetal Brain Female	brain
6	chr6:56408200-56417200	Weak transcription	Fetal Brain Male	brain
7	chr6:56408200-56417400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:56408200-56419400	Weak transcription	Placenta	Placenta
9	chr6:56408200-56419800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:56408400-56416600	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:56408400-56416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:56408400-56416800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:56408400-56416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:56408400-56416800	Weak transcription	Fetal Stomach	stomach
18	chr6:56408400-56417400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:56408400-56417400	Weak transcription	HMEC	breast
20	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:56408600-56417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:56408600-56417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:56409000-56416800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:56410200-56417000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:56411400-56417400	Enhancers	Brain Substantia Nigra	brain
26	chr6:56411800-56419600	Weak transcription	A549	lung
27	chr6:56412000-56417600	Enhancers	Brain Anterior Caudate	brain
28	chr6:56412800-56418000	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:56413200-56416800	Weak transcription	Psoas Muscle	Psoas
30	chr6:56413200-56419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:56413600-56417600	Enhancers	Brain Hippocampus Middle	brain
32	chr6:56413800-56458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:56414000-56419600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:56414200-56417400	Weak transcription	HUVEC	blood vessel
35	chr6:56414400-56416800	Enhancers	Liver	Liver
36	chr6:56414400-56418000	Genic enhancers	HSMM	muscle
37	chr6:56414800-56416800	Enhancers	Brain Cingulate Gyrus	brain
38	chr6:56415200-56417000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:56415200-56417000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:56415200-56418400	Genic enhancers	HSMMtube	muscle
41	chr6:56415400-56417600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr6:56415400-56427000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:56415600-56416600	Weak transcription	Right Atrium	heart
44	chr6:56415600-56417000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:56415600-56417000	Weak transcription	Aorta	Aorta
46	chr6:56415600-56417000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:56415600-56417200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:56415600-56417400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:56415600-56417800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:56415600-56417800	Genic enhancers	Fetal Intestine Large	intestine

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