Variant report

Variant	rs4960053
Chromosome Location	chr6:4940912-4940913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4936581..4938828-chr6:4939239..4942191,2	MCF-7	breast:
2	chr6:4932686..4935166-chr6:4938029..4940915,3	MCF-7	breast:
3	chr6:4921448..4923447-chr6:4939965..4942220,2	MCF-7	breast:
4	chr6:4929125..4930860-chr6:4939699..4942509,2	MCF-7	breast:
5	chr6:4937204..4938732-chr6:4940412..4941968,2	K562	blood:
6	chr6:4934856..4938294-chr6:4940217..4942355,4	K562	blood:
7	chr6:4938946..4941254-chr6:4944002..4946079,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11753718	0.83[EUR][1000 genomes]
rs9378922	0.84[EUR][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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4960053	C6orf201	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4913200-4941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:4915800-4942400	Weak transcription	Aorta	Aorta
3	chr6:4925600-4941600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:4929400-4941600	Weak transcription	Osteobl	bone
5	chr6:4932000-4942000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:4932200-4945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:4932400-4941000	Weak transcription	HSMM	muscle
8	chr6:4932400-4941400	Weak transcription	NHDF-Ad	bronchial
9	chr6:4932400-4941600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:4932400-4942000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:4932400-4942400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:4932600-4941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:4932600-4942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:4932600-4944200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:4932600-4944600	Weak transcription	Colonic Mucosa	Colon
16	chr6:4932800-4944400	Weak transcription	Thymus	Thymus
17	chr6:4933000-4942200	Weak transcription	Fetal Intestine Large	intestine
18	chr6:4933000-4944400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:4933200-4941600	Weak transcription	Ovary	ovary
20	chr6:4933400-4941000	Weak transcription	Psoas Muscle	Psoas
21	chr6:4933400-4941800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:4933400-4942000	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:4933400-4944600	Weak transcription	Pancreas	Pancrea
24	chr6:4933600-4941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:4933600-4942400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:4933800-4941000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:4933800-4941400	Weak transcription	Right Ventricle	heart
29	chr6:4933800-4944400	Weak transcription	Gastric	stomach
30	chr6:4934200-4941400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:4934200-4941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:4934200-4943000	Weak transcription	Right Atrium	heart
33	chr6:4935000-4941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:4935400-4941400	Weak transcription	HSMMtube	muscle
35	chr6:4936000-4942200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:4936200-4942400	Weak transcription	Lung	lung
37	chr6:4936400-4941000	Weak transcription	Spleen	Spleen
38	chr6:4936400-4941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:4936400-4941400	Weak transcription	Left Ventricle	heart
40	chr6:4936400-4941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:4936400-4942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:4936400-4942400	Weak transcription	Esophagus	oesophagus
43	chr6:4936400-4943000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:4936400-4943200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:4936400-4943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:4936400-4944600	Weak transcription	Liver	Liver
47	chr6:4936600-4942400	Weak transcription	Fetal Thymus	thymus
48	chr6:4936800-4942400	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:4937000-4941400	Weak transcription	Brain Anterior Caudate	brain
50	chr6:4937000-4942000	Weak transcription	Brain Cingulate Gyrus	brain

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